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New Challenges inPaediatric Ophthalmology
EPOS 2010
36 Annual Meeting of theEuropean Paediatric Ophthalmological Society
th
Local Hosts: Birgit Lorenz, Markus Preising
30.09. - 02.10.2010
Hotel Dolce, Bad Nauheim, Germany
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ISBN 978-3-00-032429
Prooceedings of the 36th Annual Meeting of the European Paediatric Ophthalmological Society (EPOS) 2010
Editors: Prof. Dr. med Birgit Lorenz and Dr. rer. medic. Markus Preising
© 2010 by EPOS
Circulation: 200 examples in print
availiable online at www.epos-focus.org/proceedings2010.pdf
Publisher: EPOS, www.epos-focus.org
Print: Rosenbaum Offsetdruck, Im Pfeilersgarten 2, 35457 Lollar, Germany
ISBN 978-3-00-032429-1
36th Annual Meeting of the European Paediatric Ophthalmological Society
Welcome by the President of EPOS
1
Dear Friends, dear Members, dear Colleagues,
It is our great pleasure to welcome you to the 36th Annual Meeting of the European Paediatric
Ophthalmological Society EPOS here in Bad Nauheim which is very close to our home university in
Giessen. It is a very special congress for me, as it will be the last under my presidency.
The Scientific Program Committee consisted of the board members of EPOS Ingele Casteels,
Pascal Dureau, Albert Francescetti, Nicoline Schalij-Delfos, Branka Stirn Kranjc, Gabriela Wirth-
Barben, Markus Preising and myself. Markus and I would like to express our sincere thanks to all
board members who helped to put together again a very interesting scientific program.
This year, the main topic is ‘”New Challenges in Paediatric Ophthalmology and as always, free
papers and posters from other fields of genetic and paediatric ophthalmology are also scheduled.
Almost one third of the 69 free contributions will be presented by young researchers who will be
evaluated during the meeting to receive one of the Best Presentation Awards in the two categories
poster and paper.
Outstanding speakers have accepted our invitation to present at the meeting: Under the title “Go
with the in-crowd” Jean Bennett will give a key lecture on her latest results related to human
RPE65 gene therapy. Challenges in genotyping will be addressed by Frans Cremers and Andreas
Gal. As an expanding society mirroring an expanding EU we have selected to have a session on
“Developing countries: Epidemiologic, technical and financial challenges”. We are expecting
outstanding data presented by Richard Bowman, Constanta Nascutzy and Tatjana Ciomartan.
Exciting data come from new imaging methods. In the session “I spy with my little eye: Challenges
in imaging and evaluation” David Wallace will report on his exciting research. In two sessions an
“Invitation to dance” reports on the challenges in interdisciplinary research that will be highlighted
by Hans-Peter Hammes, Silke Haverkamp, Michael Hofmann, and Klaus Preissner.
One key mission of EPOS is to promote clinical and scientific paediatric ophthalmology throughout
Europe and beyond, and in particular to attract young clinicians and researchers in the field. In this
spirit, this meeting continues to have, in addition to keynote lectures, papers with sufficient time for
discussion and ample poster sessions that encourage vivid exchange of ideas. This year, we will
have 12 keynote lectures, 27 free papers, and 43 posters. Researchers from as many as 26
countries will present their results, and we are happy to welcome an increasing number of
colleagues from Europe’s neighbour states in North Africa and the Middle East.
The General Assembly of the EPOS will be held on Saturday, from 11.15 h to 12.30 h. The agenda
has been circulated to all members. Attendance is extremely important since all members have the
opportunity to design the aims of the society and propagate paediatric ophthalmology throughout
Europe. The President, Treasurer, and Secretary are completing their current terms this year and
36th Annual Meeting of the European Paediatric Ophthalmological Society
Welcome by the President of EPOS
2
new officers need to be elected to these posts. Our statutes have served us well for the past ten
years but now the first amendments proposed need to be discussed and implemented.
As in previous years, we would like to thank all exhibitors and sponsors for their significant efforts
in supporting the meeting, and encourage all participants to visit the technical exhibit during coffee
breaks and the scientific lunch symposium by Théa on Friday.
Further, we wish to express our sincere thanks to Christine Mais, the thesis students and the staff
of the Laboratory for Molecular Ophthalmology of the Department of Ophthalmology of the
University of Giessen who helped with the arrangements to make this meeting go smoothly and
agreeably for all of us.
Since the foundation of EPOS, formerly EPOG, numerous fruitful relations have been built up
among EPOS members and continue to grow by including new clinicians and researchers in the
very dynamic field of Paediatric and Genetic Ophthalmology.
Markus and I hope that this year’s meeting will again trigger new fruitful collaborations and
personal contacts between participants to make the Society grow even further as well as
strengthening old friendships.
Birgit Lorenz, MD Markus Preising, PhD
Congress President Congress President
President of EPOS
36th Annual Meeting of the European Paediatric Ophthalmological Society
Welcome by the Dean of the Medical Faculty of the Justus Liebig University
3
Dear Prof. Lorenz, Distinguished Guests and Speakers, Ladies and Gentlemen,
Let me, on behalf of the University of Giessen and its Faculty of Medicine, extend a very warm
welcome to the delegates and participants of the European Paediatric Ophthalmological Society
here at Bad Nauheim.
Vision is one of our most important senses and it is estimated that about one-third of the brain
function is involved in visual processing. Visual impairment in childhood has a major impact on
mental processes and personal development of a child with important social consequences.
Therefore identification and prevention of visual processing defects is a key to progress in disease
alleviation.
The paediatric ophthalmologist holds a key position in the interaction with other specialist fields of
medicine such as in paediatrics, neuropaediatrics, ear-nose and throat, craniofacial surgery,
endocrinology, neuroradiology, immunology and genetics. Indeed, the paediatric ophthalmologist is
a team player translating diagnosis into therapeutic options and rehabilitation.
This year´s meeting focuses on current challenges in paediatric ophthalmology and has a broad
agenda. This is mirrored in many of the talks and posters to be presented here over the next two
days that will feature developments in diagnostics and gene therapy, and discuss problems in
implementing state-of-the art techniques in developing countries where needs are pressing
As with many clinical vocations there is a need to attract and support young clinicians and
researchers for future tasks and challenges in paediatric ophthalmology. I am delighted to learn
that EPOS has therefore implemented travel- and research- grants for young ophthalmologists and
researchers.
The organizers of this meeting are to be congratulated on putting together an excellent program
with distinguished local, national and international speakers. Weather permitting; I would
encourage you to use your vision to take in the beautiful surroundings of the venue of this meeting.
Finally, I wish you all an eye-opening, enjoyable and memorable meeting here in Bad Nauheim.
Trinad Chakraborty
Dean, Faculty of Medicine
36th Annual Meeting of the European Paediatric Ophthalmological Society
Information on Bad Nauheim
4
Ladies and Gentlemen,
I am very pleased by your decision to choose the health city Bad Nauheim to host the 36th Annual
Meeting of the European Paediatric Opthalmological Society. Further more the venue, Congress
Hotel Dolce, provides a superior choice of an ambience for your ambitious programme.
Exchange among colleagues and the opportunity to experience lectures on up to date research by
world wide renowned scientists are mandatory in times of quickly emerging medical knowledge
especially in hereditary and paediatric eye disorders. You get the opportunity to discuss topics
related to your profession and to enlarge your knowledge since high quality service depends on
recent and comprehensive information.
The evening social with charity concert and charity dinner promises to become an extraordinary
event. All those who contribute to the evening social may feel as goodwill ambassador. Your
participation supports precious research projects and shows your appreciation of the efforts taken
on these topics.
I like to express my gratitude to the organizers and all those involved in the success of the
meeting. Take the chance to extend your views and knowledge with your colleagues from almost
30 countries.
I wish you highly informative presentations, active discussions, and a convenient stay in our
beautiful art nouveau and health city Bad Nauheim. Take your chance to visit the terrain of the
Landesgartenschau 2010 in our town. You will find many inspirations for a timely garden design
based on a fortunate and successful alliance of utility space and recreation area!
Yours
Bernd Witzel Mayor
36th Annual Meeting of the European Paediatric Ophthalmological Society
Information on Bad Nauheim
5
Art Nouveau spa with unique options of well-being
Over many years tradition and an innovative research made Bad Nauheim a leading medical
location. The city of health is not only centre of famous hospitals but also a place for well-being. In
front of a gorgeous Art Nouveau heritage different kinds of spa-water provide an ideal opportunity
for regeneration and healing. The surname “Three empresses’ spa” indicates Bad Nauheim used
to be a place for the European nobility. Crowned heads like the Austrian empress Elisabeth, the
German empress Auguste Viktoria or the Russian tsarina Alexandra came to Bad Nauheim as well
as politicians, intellectuals and other notables. The curative effect of the salted and carbonated
water especially for heart cases spread among doctors and patients even far beyond the European
borders.
Leading medicine for the good of the patients Still today Bad Nauheim has an excellent reputation as a centre of excellence for heart, and
cardiovascular diseases. Specialized hospitals of international reputation take care of the well-
being of their guests. The Max-Planck-Institute for Heart and Lung Research, which is closely
linked to the Kerckhoff campus, is very important for the city as a centre of science. The Kerckhoff
campus consists of the newly erected Kerckhoff Klinik, the Kerckhoff rehabilitation centre, as well
as the Diabetes-Klinik of the Pitzer group and the HELIOS William Harvey Klinik for vascular
diseases. Patients benefit from this unique centre for heart and vascular diseases in Germany by
the treatment of a broad spectrum of disease. The close cooperation between the hospitals results
in an ideal attendance for the patients, in short distances and in fast diagnoses as well as in closely
coordinated therapies.
World-famous athletes appreciate the professional competence and the flair of the spa. Many
professional athletes like the Formel 1 champion Michael Schumacher visit the “Sportklinik” in Bad
Nauheim regularly to gain fitness at the highest level. During the football world championship in
2006 Bad Nauheim was the accommodation for the team of Saudi Arabia, half century after King
Ibn Saud already visited Bad Nauheim with his whole royal household to take a medical rehab for
four weeks.
The hospital for Parkinsonism, which is the biggest in Europe, offers medicine at the highest level
and collaborates with the Soemmerring institution for behaviour neurology and apraxia, which
linked to the universities of Gießen and Marburg.
Bad Nauheim is a place of international reputation for wholesomeness, which presents itself as the
first place to go also for foreign patients. The personal recovery is supported by the “Medical
Coordinator” who is responsible for organising the individual medical therapies by cooperating with
all hospitals and leading doctors.
36th Annual Meeting of the European Paediatric Ophthalmological Society
Information on Bad Nauheim
6
Unique Art Nouveau ensemble
The salted water which has its source between the Taunus and the Wetterau region since 500.000
years and already provided wealth and power to the Celts, constituted Bad Nauheim’s rise to a
world spa of empresses and kings. The change to a spa took place in the first half of the 19th
century when the healing power of the brine spring was discovered. To fulfil the the rising demands
of the bathers, Wilhelm Jost got an order from the art loving emperor Ernst Ludwig von Hessen
and bei Rhein to build a spacious bathing complex. Between 1905 and 1912 arose the Sprudelhof
with its arcaded framing, six bath houses including approximately 267 cubicles, the Trinkkuranlage,
a hall for concerts and theatres as well as buildings for administration and engines. Only the best
material was used in an integrated work of art consisting of many small details. In bath house 3
you can experience the bathing from the past with all its gorgeous decorated waiting and
recreation rooms and the Australian wooden bath tubs. The quiet inner courtyards and gardens of
the bath houses, which are probably the most important resort experiences because of its amenity
and its beauty, are still used as an area of relaxation and quietness after a bath. Thanks to the
biggest complete Art Nouveau building of Europe, Bad Nauheim became the first German member
of the EU-promoted “Reseau Art Nouveau Network” which is a cooperation between 19 European
cities like Barcelona, Brussels and Budapest.
The brilliant height of the Art Nouveau Spa can be experienced closely in September during the Art
Nouveau festival. Music, literature, movie, culinary art, architecture and fashion – the Art Nouveau
festival emblazes a variety of facets of the art genre like guided tours through the bath houses,
concerts or expositions.
Regenerating with an exhilarant sea breeze
Located idyllically on the brink of the Taunus, Bad Nauheim offers a varied programme all about
health and “Medical Wellness”. The spa treatments go from Ayurveda to yoga. Treatments are also
available in the “Therme am Park”, which invites its guests to a time full of pleasant bathing and
relaxing in the 36° hot thermal pools. Due to the wave machine, flumes and Jacuzzis, the “Usa-
Wellenbad” (swimming pool) inspires the young and the old.
Another way to perceive the healing effect of the water is by inhalation. Five salt works (graduation
houses) with a length of 650 m as a whole arrange for the trickling of the brine. In this process the
finest salted droplets are set free and ease the mucous membrane of the respiratory system. In the
inhalation room you can enjoy the healthy sea breeze very intensively. Near the salt work II the
health garden with its 15 stations provides new experiences for all senses.
36th Annual Meeting of the European Paediatric Ophthalmological Society
Information on Bad Nauheim
7
On the traces of Elvis
Even Elvis Presley stocked up on the bracing sea breeze in his “European home” Bad Nauheim.
Who wants to follow the traces of the “King of Rock ‘n‘ Roll” can join a guided tour which includes
the dwelling houses where the legendary superstar used to live in his period of military service
from 1958 to 1960. The European Elvis Festival in August attracts Elvis-Fans from all over the
world to watch concerts from well-known interpreters or parades of Cadillacs and Harleys.
Fascination roses
A visit to Bad Nauheim is especially worth in summer when all rose gardens flourish. The district
Steinfurth has a very long tradition back to 1868 when Heinrich Schultheis founded the first school
of roses. Until today the roses from Steinfurth have an excellent international reputation: due to
their robust quality and the high duration of blossoming, they are shipped to many places
throughout the world. The museum of roses is unique in the world and expresses the beauty of the
flower in an artistic and literate way. Every second year the gardeners of Steinfurth celebrate the
queen of flowers with the big rose festival. The highlight of the festival is a gorgeous rose-parade
led by the rose queen.
36th Annual Meeting of the European Paediatric Ophthalmological Society
Programme
8
Thursday 30.09.2010
17.30 h Congress Bag Counter opens for pre-registered participants
18.00 – 20.00 h Onsite Registration
18.00 – 22.00 h Opening Reception
20.00 h Board Meeting
Friday 01.10.2010
8.30 h Birgit Lorenz Welcome by the President and Local Host
8.40 h Trinad Chakraborty Welcome by the Dean of the Medical Faculty of the Justus-Liebig University Giessen
8.50 – 10.00 h I. Scientific Session Developing Countries – Epidemiologic, Technical and Financial Challenges
Chairperson David Wallace –
Nadiya Bobrova
L1 8.50 h Richard Bowman Challenges of Managing Paediatric Cataract in Sub
Saharan Africa
L2 9.10 h Constanta Nascutzy Challenges in the Screening and Treatment of
Retinopathy of Prematurity in Romania and Other
Central and Eastern European Countries in Europe
L3 9.30 h Tatiana Ciomartan Challenges in the Care of Preterm Babies with
Retinopathy of Prematurity from Romania and Other
Central and Eastern European Countries
T1 9.40 h Raymond Brown Funding of an Ophthalmic NGO in an Emerging
Economy
9.50 h Discussion
36th Annual Meeting of the European Paediatric Ophthalmological Society
Programme
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Topic Related Posters in Friday Poster Session
P1 Nicolaos Ziakas Preschool Visual Screening in the Municipality of
Thessaloniki
P2 Patricia Domsa Place of Web-Based Visual Screening in Pediatric Eye
Care
10.00 – 10.30 h Coffee Break
10.30 - 11.45 h II. Scientific Session Invitation to Dance – The Challenge of Interdisciplinary Research I Neovascularization and the Eye
Chairperson Klaus T. Preissner – Pascal Dureau
L4 10.30 h Hans-Peter Hammes Neovascularization in the Eye – Lessons from
Translational Blood Vessel Research
L5 10.50 h Klaus T. Preissner Challenges in the Treatment of Pathological
Neovascularization: New Players and Mechanisms
T2 11.10 h Birgit Lorenz The Giessen Experience with Anti-VEGF Therapy for
APROP
T3 11.20 h Phanthipha Wongwai Outcome of Adjunctive Intravitreal Bevacizumab
Combined with Laser Indirect Ophthalmolscopy for
Treatment of ROP
11.30 h Discussion
Topic Related Posters in Friday Poster Session
P3 Tobias Wimmer In Vitro Expression of the Anti-VEGF-F(Ab)-Fragment
Ranibizumab
11.45 – 12.15 h Théa Lunch Symposium
36th Annual Meeting of the European Paediatric Ophthalmological Society
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12.15 – 13.30 h Théa Luncheon
13.30 – 14.30 h Friday Poster Session
Posters unrelated to Paper Sessions
P4 Nikolaos Kozeis Keratitis in Reiter's Syndrome in Childhood
P5 Aneta Skupin Oculoglandular Syndrom Parinaud
P6 Nicolaos Ziakas Bilateral Traumatic Optic Neuropathy in Child - Case
Report
P7 Victoria Balasanyan And where is Pathology at Oculomotor Pareses? New
Approach to Old Challenge
P8 Nikolaos Kozeis Visual Skills and Gross Motor Function in Spastic
Diplegic Children
P9 Judit Körtvélyes Impaired Foveal and Peripheral Face Processing in
Amblyopia
P10 Giorgio Porro Visual Fields Defects by Sturge Weber Syndrome
P11 Nikolaos Kozeis Visual Function vs. Psychomotor Development of
Premature Infants with No Severe Adverse Effects
14.30 – 16.00 h III. Scientific Session Go with the In-Crowd – Challenged by Up to Date Science I Phenotypes Between New Genes and Modifiers
Chairperson: Andreas Gal – Matthias Seeliger
L6 14.30 h Frans Cremers Homozygosity Mapping in Nonconsanguineous
Families Facilitates the Identification of Novel Retinal
Dystrophy Genes
L7 14.50 h Andreas Gal Genetic Modifiers of Disease Phenotype
T4 15.10 h Hanno J. Bolz PDZD7 is a Modifier of Retinal Disease and a
Contributor to Digenic Usher Syndrome
36th Annual Meeting of the European Paediatric Ophthalmological Society
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T5 15.20 h Hélène Dollfus How Many Genes for Bardet-Biedl Syndrome?
15.30 h Discussion
Topic Related Posters in Friday Poster Session
P12 Konstantinos Aliferis Overlapping of Alström and Bardet-Biedl Syndrome
Early Phenotype Confirmed by Systematic High
Throughput Ciliopathy Genes Sequencing
P13 Jutta Hosch Development of a Humanized Mouse-Model for X-
Linked Retinitis Pigmentosa Caused by a Point
Mutation in the RPGR Gene
16.00 – 16.30 h Coffee Break
16.30 – 17.50 h IV. Scientific Session Go with the In-Crowd – Challenged by Up to Date Science II Gene Therapy
Chairperson: Frans Cremers – Knut Stieger
L8 16.30 h Jean Bennett Restoration of Cortical Vision After Gene Therapy for
Congenital Blindness
L9 16.50 h Mathias Seeliger Molecular Therapy in Retinal Degenerations – What's in
the Pipeline?
T6 17.10 h Knut Stieger Evaluation of AAV Mediated Gene Therapy for RPE65
Patients by Highly Sensitive Psychophysical
Techniques
T7 17.20 h Mariya Moosajee Novel S/MAR Vectors Provide a Non-Viral Gene
Therapy for Choroideraemia
17.30 h Discussion
36th Annual Meeting of the European Paediatric Ophthalmological Society
Programme
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Topic Related Posters in Friday Poster Session
P14 Bert Constantin Giers Immunhistochemical Characterization of AAV
Transduced Retinae Following Subretinal Injection in
Rats
19.00 h Limburger Domsingknaben and Alison Browner
Charity Concert at the Theater Dolce
20.30 h Charity Dinner at the Hotel Dolce
Patron: Prof. Dr. phil. Joachim-Felix Leonhard
Saturday 02.10.2010
8.00 – 9.20 h V. Scientific Session Challenges in Treatment
Chairperson: Nicoline Schalij-Delfos - Ingele Casteels
T8 8.00 h Alicia Serra Our Experience with Paediatric Aphakic Glaucoma
T9 8.10 h Marije Sminia Corneal Endothelial Cell Density after Artisan Aphakia
IOL Implantation for Crystalline Lens Subluxation in
Marfan Syndrome.
T10 8.20 h Nadiya Bobrova New Treatment Modality of Combined (Local and
Systemic) Retinoblastoma Chemotherapy. (First
Results).
T11 8.30 h Marie-Claire Gaillard Ranibizumab (Lucentis®) in the Management of Late-
Stage Coats’ Disease
T12 8.40 h Tomoko Maeda-
Chubachi
Phase 3, Prospective, 12-Week, Double-Masked,
Multicentre Study of Latanoprost (LAT) and Timolol
(TIM) in Paediatric Glaucomas: Age and Diagnosis
Subgroup Analysis
36th Annual Meeting of the European Paediatric Ophthalmological Society
Programme
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T13 8.50 h Francis L. Munier Preliminary Results of Superselective Ophthalmic
Artery Chemotherapy (SOAC) in 14 Patients with
Advanced Retinoblastoma
T14 9.00 h Anton Gerinec Orbital Tumors in Children
9.10 h Discussion
Topic Related Posters in Saturday Poster Session
P15 Nadiya Bobrova Liquid Implant in Congenital Glaucoma Surgical
Treatment.
P16 Nadiya Bobrova Infants Implantation Surgery – New Approaches
P17 Birgit Lorenz Secondary Infantile Cataract Associated with Presumed
Intrauterine Infection
P18 Werner Schmidt Cataract Surgery and Postoperative Outcome in a Child
with Hallermann-Streiff Syndrome with Dysproportional
Microphthalmia
P19 Marta Morales Uveal Effusion Syndrome in Hallermann-Streiff
Syndrome
P20 Gianfranco Bellizzi Treatment of Severe Vernal Keratoconjunctivitis with
1% Topical Cyclosporine in Children
P21 Anne-Claudia Stefanut The Management of the Bilateral Palpebral Necrotizing
Fasciitis in a Newborn with Agammaglobulinemia
Bruton
P22 Julia Escudero Infantil Palpebral Angioma Treated with Topical
Betablockers
P23 Melanie Jäger Unusual Unilateral Orbital Tumor in an Infant
P24 Reshma Thampy Rhabdomyosarcoma Masquerade Syndrome: Pitfalls in
Diagnosis
9.20 – 9.50 h Coffee Break
36th Annual Meeting of the European Paediatric Ophthalmological Society
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9.50 – 10.50 h VI. Scientific Session Retinopathy of Prematurity
Chairperson: Constanta Nascutzy – Gerd Holmström
T15 9.50 h Dordi Austeng Screening for Retinopathy of Prematurity in Infants Born
Before 27 Weeks of Gestation in Sweden
T16 10.00 h Nicoline Schalij-Delfos The Incidence of Visual Impairment Due to ROP and
Their Concomitant Disabilities in the Netherlands. A
Thirty Year Overview.
T17 10.10 h Arlette van Sorge Preliminary Results of the NEDROP-Study: a National
Inventory on Screening for Retinopathy of Prematurity.
T18 10.20 h J Kate Barnes Five Year Visual Outcome of Children, Following
Treatment with Diode Laser for Retinopathy of
Prematurity Under Sub-Tenon’s Local Anaesthesia.
T19 10.30 h Catherine Cassiman Functional and Structural Ophthalmological Outcome in
Cryo- or Laser Treated Premature Babies with
Retinopathy of Prematurity (ROP) Between 1989 and
2008.
10.40 h Discussion
Topic Related Posters in Saturday Poster Session
P25 Nicolaos Ziakas Screening of Retinopathy of Prematurity Using Sucrose
As Analgesia
P26 Isabel George or Karel
Allegaert
Early Neonatal Creatinaemia is an Indicator of the
Subsequent Risk to Develop Threshold Retinopathy
P27 Anne-Claudia Stefanut Oxidative Stress - a Biomarker in Retinopathy of
Prematurity
P28 Anne-Claudia Stefanut Oxidative Stress Parameters in a Model of Oxygen
Induced Retinopathy
P29 Nadiya Bobrova Efficacy of Green Laser Photocoagulation for
36th Annual Meeting of the European Paediatric Ophthalmological Society
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Aggressive Posterior Retinopathy of Prematurity
P30 Dana Tomcikova Benefit of Paint Diode Laser Coagulation in Treatment
of ROP.
P31 Natalya Fomina The Challenge of the Relations Between the Parents of
the Premature Babies and Paediatric Ophthalmologists.
11.00 – 12.15 h EPOS General Assembly
12.15 – 13.45 h Lunch Break
13.45 – 14.30 h Saturday Poster Session
14.30 – 15.30 h VII. Scientific Session Invitation to Dance – The Challenge of Interdisciplinary Research II Retinal Development
Chairperson: Nikos Kozeis - Helene Dollfus
L10 14.30 h Michael Hoffmann Misrouting of the Optic Nerves – the Visual Cortex
Keeps Track of Abnormal Tracks!
L11 14.50 h Silke Haverkamp Ectopic Ribbon Synapse Formation in the Outer Retina
of Mutant Mice Lacking Functional Rods and Cones
T20 15.00 h Hanna Akerblom Retinal Nerve Fibre Layer and Optic Nerve Head
Parameters in Prematurely-Born Children.
T21 15.10 h Manca Tekavcic
Pompe
Which Psychophysical Colour Vision Test to Use for
Screening in 3-9 Year Olds?
15.20 h Discussion
15.30 – 16.00 h Coffee Break
36th Annual Meeting of the European Paediatric Ophthalmological Society
Programme
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16.00 – 17.00 h VIII. Scientific Session I Spy with My Little Eye - Challenges in Imaging and Evalution
Chairperson: Michael Hofmann - Birgit Lorenz
L12 16.00 h David Wallace Pediatric Retinal Imaging: The Future is Here!
T22 16.20 h Ramiro S. Maldonado Evaluation of the Neonatal Macula Using Spectral
Domain Optical Coherence Tomography (SD OCT)
T23 16.30 h Jaume Català-Mora OCT and Clinical Features of Chorioretinal Colobomas
in Children
T24 16.40 h Christoph Friedburg Foveal Ultrastructure and Fundus Autofluorescence in
Achromatopsia.
16.50 h Discussion
Topic Related Posters in Saturday Poster Session
P32 Christina Pieh-Beisse Retinal Nerve Fiber Layer Thickness in Children
Measured by Spectral Domain OCT
P33 Reshma Thampy Fluorescein Angiography-Guided Management of
Retinopathy in Incontinentia Pigmenti: A Case Series.
P34 Lígia Ribeiro Macula and Nerve Fiber Layer Thickness in Amblyopia:
an Optical Coherence Tomography Study
P35 Alexander Ehnes Optical Coherence Tomography – Device Independent
Automatic Segmentation of Intraretinal Layers
P36 Matthäus Pilch Optical Coherence Tomography - Automatic
Segmentation of Locally Limited Structures
P37 Steffen Zahn Introducing an Application for the Analysis,
Segmentation and Interpretation of OCT Investigations
Applicable for Multiple Devices
36th Annual Meeting of the European Paediatric Ophthalmological Society
Programme
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17.00 – 17.40 h IX. Scientific Session Challenges in Genetics II
Phenotypes
Chairperson: Hanno Bolz
T25 17.00 h Pascal Dureau Ocular Manifestations of Incontinentia Pigmenti
T26 17.10 h Markus Preising RD3 mutation in a consanguineous LCA family
T27 17.20 h Francesco Testa New Insight in Retinal Phenotype of Patient with AIPL1
Mutations
17.30 h Discussion
Topic Related Posters in Saturday Poster Session
P38 Elzbieta Markowska Best Disease - A Case Report
P39 Yaumara Perdomo-
Trujillo
Severe Optic Neuropathy Mimicking Leber Hereditary
Optic Atrophy in a Friedreich’s Ataxia Patient.
P40 Francoise Roulez Retinal Neovascularisation,
Blepharokeratoconjunctivitis and Progressive Entropion
in a Young Girl with Autosomal Dominant Severe
Dyskeratosis Congenita (DC) Due to TINF2 Gen
P41 Eduardo Marinho
Saraiva
Nanophthalmos: A Family Case Report
P42 Nikolaos Kozeis Increased C/D Ratio in Noonan Syndrome
P43 Francoise Meire Non-syndromic bilateral and unilateral optic nerve
aplasia associated with microdeletion of
10q23.33q23.33: first familial case and potential role of
CYP26A1 and CYP26C1 genes in optic nerve
development
17.40 h Birgit Lorenz Scientific Awards
17.50 h Birgit Lorenz Closing Remarks
18.00 h End of Meeting
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts - Lectures
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L01: Challenges of Managing Paediatric Cataract in Sub Saharan Africa Richard Bowman
CCBRT Hospital, Dar es Salaam, Tanzania
Presented by Richard Bowman
A number of studies have suggested that cataract has become the leading cause of blindness in
children in sub Saharan Africa, having overtaken corneal blindness from vitamin A deficiency and
measles. This is probably due to successful mass vitamin A supplementation and measles
vaccination programs rather than any change in cataract incidence. Little is known about the
causes of cataract in children in Africa. Our studies of cataract surgery for children in east Africa
have shown that some of the challenges involved in managing this condition include late
presentation, poor accessibility, and poor follow up. Additional studies have tried to investigate
these barriers further in order to try to devise strategies to address them. Despite these barriers
our outcome study from CCBRT showed that two thirds of children who came back for follow up
had post-operative visual acuities of 6/18 or better in their better eye which should allow
mainstream education. The WHO has recommended that paediatric cataract surgery be confined
to specialist childrens eye centres or Child Eye Health Tertiary Facilities (CEHTFs). We have
conducted a situation analysis on CEHTFs for the Africa and have established a training program
in CCBRT including a 6 month paediatric ophthalmology fellowship and shorter training for other
members of the team such as nurses, refractionists and vision therapists.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts - Lectures
20
L02: Challenges in the Screening and Treatment of Retinopathy of Prematurity in Romania and Other Central and Eastern European Countries in Europe Constanta Nascutzy
Institute for Mother and Child Care "A. Rusescu"
Presented by Constanta Nascutzy
Objective: to provide an overview of major challenges in the screening and treatment of preterm
babies with retinopathy of prematurity (ROP) in Romania and other developing countries in
Europe. ROP is currently the major avoidable cause of blindness in these countries, with a steady
increase in incidence, including that of severe stages in relatively more mature and larger babies.
This is described as “the third ROP epidemic”. Significant regional variations in ROP incidence,
usually correlated with neonatal practices, are reported in various developing countries. Few have
national population-based data on ROP incidence. Romania is no exception, incidence varies from
one region to another (20% in the north, 55% in the south; severe ROP from 7% to 28%, 20% of
the severe ROP cases would have been missed if we would have used birthweight less than
1500g as a screening guideline). Setting-up national ROP programmes, including registries, is still
a challenge. Developing countries face the same, if not more severe shortage in experienced
paediatric ophthalmologists than developed countries. Telemedicine is useful for screening and
follow-up, as well as training of ophthalmologists, neonatologists, paediatricians, nurses etc.
Gradual improvements are occurring in equipment available for screening and treatment. Logistical
challenges are represented by problems in universal patient access to screening centres or that of
ROP specialists to patients; these could be overcome by telemedicine. ROP screening and laser
treatment are performed following international protocols, adapted to the needs and resources of
the local population. Tertiary level child eye-care centres are still few in developing countries and
vitreoretinal surgeons even more so. Limited financial resources are allocated by national
governments and international agencies (WHO, UNICEF), in some developing countries health is
not a major political priority. Cost estimates for ROP screening and treatment are difficult to obtain
in developing countries due to lack of resources to conduct cost-utility analyses. Conclusions: In spite of all of the above-mentioned challenges, significant progresses have taken
place in ROP screening and treatment in developing countries. Further efforts are needed to
achieve results comparable with those of developed countries.
Conflict of Interest: None Author does not allow recording of the presentation.
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts - Lectures
21
L03: Challenges in the Care of Preterm Babies with Retinopathy of Prematurity from Romania and Other Central and Eastern European Countries Tatiana Ciomartan
Institute for Mother and Child Care "A. Rusescu"
Presented by Tatiana Ciomartan
Objective: to provide an overview of major challenges in the care of preterm babies with
retinopathy of prematurity (ROP) in in Central and Easter Europe. In the past 20 years
considerable progress has been achieved in the quality of neonatal services, increasingly more
immature and smaller babies survive in this region. Nevertheless, some countries have less
resources to save extremely low birthweight infants. National ROP programmes exist in many of
these countries, but often they do not manage to cover the entire target population. Registries that
would allow proper evaluation of incidence of ROP are difficult to establish in some countries, and
thus there is a risk of multiple reporting, as well as of missing some preemies. No unique patient
record is used at national level. In spite of saving more and more immature babies, ROP has been
diagnosed in significantly more mature and larger babies in Romania and other countries in the
region, which prompted the adaptation of ROP screening guidelines used in the developed
countries to the local situation in each Central and Eastern European country. We still see babies
that go blind because they reach a referral centre when it is too late (in a large Romanian sample
30 children presented at their first examination with stage bilateral 5 ROP, numbers are now
decreasing). Long-term follow-up of babies with ROP is hindered by logistical difficulties – children
are referred from second level maternities, screening is often done by transporting the baby from
the maternity to the reference centre; after discharge low-income families have a hard time coming
for the follow-up visits. Severe shortage in trained personnel for ROP screening and treatment is a
major issue impeding on the success of ROP programmes. Telemedicine, a possible solution to
this problem, is available in very few centres. Expenses for ROP screening and treatment are
covered exclusively from govermental sources – these are often insufficient and delayed. In many
countries health is not a political priority. Conclusions: Central and Eastern European countries have made considerable progress in the
care of preterm babies with ROP. In this region more mature and larger babies have ROP, possibly
because of variations in neonatal care (O2 monitoring). Increased public and governmental
awareness of ROP will have these countries reach the level of care achieved in Western Europe.
Conflict of Interest: None Author does not allow recording of the presentation.
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts - Lectures
22
L04: Neovascularization in the Eye – Lessons from Translational Blood Vessel Research Hans-Peter Hammes
5th Medical Department, Universitätsmedizin Mannheim, University of Heidelberg
Presented by Hans-Peter Hammes
Diabetic retinopathy is the leading cause of blindness in western countries, a fact that has not been
substantially altered by the implementation of intensified insulin therapy or polypharmacy. Even if
the translation of knowledge gathered through large network program sponsered by the EU and
the BMBF would lead to a significant prevention of diabetes, the burden of vascular complications
would not drop during the next 10-20 years. Diabetic retinopathy is not a proliferative disease, as
often thought, contrasting with the general vasoregressive pattern of other target tissues of diabetic
complications, it is primarily also a vasoregressive disease, however with a neovascular response
to injury. Animal models cannot fully represent the complexity of hyperglycemia-induced cell and
matrix alterations so that the clinically meaningful transition from vasoregressive to
vasoproliferative predominance cannot be modelled in animals. Still, some important aspects of
angiogenesis can be investigated in its complexity in vivo, and the mouse retina has evolved as a
suitable model of angiogenesis. Applying state of the art histological techniques and novel genetic
and pharmaceutical tool in genetically modified mice, important aspects contributing to the relevant
stages of angiogenesis (permeability, migration, proliferation, lumen formation, stabilization) have
found some molecular targets which may proof usefull in translation to medical therapy. In this line,
concepts such as the tip cell – stalk cell – phalanx cell have found their limitations, and pericytes,
previously conceived as cellular mediators of angiogenesis inhibition, have conceptually converted
into tour guides of angiogenesis. It has also become clear that the plethora of growth factors have
specific roles in the angiogenic retina, and their relative contributions to physiological and
pathological angiogenesis is now becoming clear. For example, the interaction of vascular
endothelial growth factor and the angiopoietin family has been considered important in
angiogenesis. However, recent evidence suggests that proliferative retinopathy occurs in the
absence of Ang-2, and angiogenesis occurs in the absence of VEGF. Together,understanding
general concepts and possible distinct tissue specifications facilitates the identification of
therapeutic targets, given the myriad of available chemical and biological compounds.
Conflict of Interest: None Author does not allow recording of the presentation.
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts - Lectures
23
L05: Challenges in the Treatment of Pathological Neovascularization: New Players and Mechanisms Klaus T. Preissner
Depart. Biochemistry, Medical School, Justus-Liebig-Universität, Giessen
Presented by Klaus T. Preissner
The process of neovascularization greatly depends on the induction of the angiogenic phenotype
of endothelial cells that is strictly controlled by humoral factors as well as by cellular
communications in the vascular system. Based on the kinetics of gene expression of cytokines
such as "vascular endothelial growth factor" (VEGF-A) or adhesion receptors (such as integrin
αvß3) in the mouse model of "retinopathy of prematurity" (ROP) respective therapeutic approaches
with anti-VEGF modalities or cyclic RGD-peptides were successful. Moreover, platelets were found
to be a major contributor to retinal neovascularization, since in the ROP-model a 35-45% reduction
in angiogenesis was found in the situation of thrombocytopenia as well as by inhibiting platelet
aggregation. Besides platelet-derived VEGF, lipid mediators such as sphingosine-1-phosphate
were identified as predominant activators of sprouting angiogenesis. Moreover, tissue remodeling
related to neovascularization as well as cell injury may lead to exposure of intracellular material
and is associated with increased permeability of blood vessels in the vicinity of the respective
process or damage. Previous work from our laboratory demonstrated that natural cellular RNA as
well as artificial RNA (poly: IC) significantly increased the permeability across brain microvascular
endothelial cells in vitro and in vivo. Extracellular RNA-/poly: IC-induced hyperpermeability of tight
monolayers of endothelial cells was mediated through the VEGF-A/VEGF-receptor 2/neuropilin
system and was accompanied by topographic alterations of tight junction proteins and VE-
cadherin. Both, antisense oligonucleotides against VEGF-receptor 2 as well as treatment with
RNase1 prevented the permeability-inducing activity of extracellular RNA completely. Finally, in a
mouse embryoid body model of stem cell differentiation, extracellular RNA was found to induce
vasculogenesis and sprouting of newly formed endothelial cells, whereas administration of RNase1
in the ROP-model resulted in 50% reduction of neovscularization. Together, these data indicate
that several "new players" appear to dictate retinal neovascularization, and as yet unrecognized
antagonistic regimens may be useful as novel therapeutic modalities.
Conflict of Interest: None Author does not allow recording of the presentation.
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts - Lectures
24
L06: Homozygosity Mapping in Nonconsanguineous Families Facilitates the Identification of Novel Retinal Dystrophy Genes Frans Cremers1, Rob Collin1, Tamar Ben-Yosef2, Dikla Bandah-Rozenfeld3, Dror Sharon3, Anneke
Den Hollander4
1Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, 2Genetics Department, Technion, Haifa, Israel, 3Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel, 4Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Presented by Frans Cremers
Introduction: Inherited retinal diseases display a high degree of genetic heterogeneity, which
renders the identification of the underlying disease genes very challenging. We develop novel
genomics strategies to identify these genes. Methods: The generally low prevalence of retinal disease-associated mutations can be used to
our advantage as these mutations often occur homozygously in patients. By using genome-wide
single nucleotide polymorphism (SNP) arrays, we can identify the regions encompassing these
mutations, both in consanguineous and nonconsanguineous families. Results: In the Dutch population, ~1/3 of patients with inherited retinal diseases carry homozygous
mutations. This suggests that the Dutch population contains subpopulations that until two
generations ago, were relatively isolated. We performed genome-wide homozygosity mapping
using high-density SNP arrays in ~400 patients with autosomal recessive retinitis pigmentosa (RP),
Leber congenital amaurosis (LCA), cone- or cone-rod dystrophy (CD, CRD), or achromatopsia
(ACHM). Patients were ascertained predominantly in the Netherlands, Canada, Israel, and
Germany. These studies revealed many patients from nonconsanguineous families with
conspicuous homozygous regions. By employing bioinformatic tools, we subsequently identified
the LCA gene LCA5, the elusive arRP gene EYS located at the RP25 locus, and the CD/ACHM
gene PDE6C. Very recently, by combining homozygosity data of patients from consanguineous
and nonconsanguineous families, we identified two novel arRP genes, C2ORF71 and IMPG2, the
latter encoding interphotoreceptor matrix proteoglycan 2. Conclusion: Homozygosity mapping in both consanguineous and nonconsanguineous families
has proven to be effective in identifying novel retinal disease genes. In combination with next
generation sequencing, this approach will allow us to rapidly identify the causal mutations in
families with retinal dystrophies.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts - Lectures
25
L07: Genetic Modifiers of Disease Phenotype Andreas Gal
Institut für Humangenetik, UKHE, Hamburg
Presented by Andreas Gal
Heterogeneity is a common feature of human genetic diseases. Genetic heterogeneity consists of
allelic heterogeneity in which different mutations in one gene result in the same trait, and locus
heterogeneity in which mutations in two or more genes produce the same phenotype. Clinical
heterogeneity refers to largely variable phenotypes that can be observed in patients with the same
disease. This phenotypic variability, both among patients from the same family and in unrelated
patients affected by the same disease, seems to be, at least in part, due to genetic modifiers.
Modifier genes may qualitatively or quantitatively alter the phenotype produced by another gene,
due to effects on penetrance, dominance, age of onset, progression, expressivity, or pleiotropy.
Usually there is a single allele that is not highly evolutionarily conserved and has a modest effect.
Modifier genes may alter the phenotype in various ways, and their effect can be observed if they
are present or absent. In the case of penetrance, the modifier may change the frequency of
affecteds among mutant homozygotes or heterozygotes by moving the threshold for expressing the
trait, i.e. a greater or smaller proportion will be affected. Variable expressivity, the extent/severity of
the trait in affecteds, can be explained by a modifier that shifts the distribution for mutant
homozygotes (or heterozygotes) relative to the phenotypic threshold. Dominance of an allele can
be altered by a modifier through moving the threshold for expressing the trait, i.e. heterozygotes
are (or are no longer) affected. In my presentation, I will review examples from the literature on
genetic modifiers affecting the various genetic features and the molecular mechanisms of their
action in various retinal diseases. Modifiers may act in both directions and as such may represent
susceptibility alleles that increase disease risk, or protective alleles that reduce it. The latter may
be promising targets to study in order to better understand ‘natural genetic resistance to disease’
and develop strategies to exploit it pharmacologically.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts - Lectures
26
L08: Restoration of Cortical Vision After Gene Therapy for Congenital Blindness Bennett Jean1, Laura Cyckowski2, Justin Monroe2, Albert Maguire1, Kenneth Shindler1, Manzar
Ashtari2
1University of Pennsylvania, 2The Children's Hospital of Philadelphia
Presented by Jean Bennett
Introduction: Gene therapy improved vision in all 12 subjects who received unilateral subretinal
injection of an adeno-associated virus (AAV) carrying the normal hRPE65 cDNA (AAV2-
hRPE65v2) in a gene therapy clinical trial for Leber’s congenital amaurosis (LCA). An unanswered
question is how the visual cortex responds to recovery of retinal function after prolonged sensory
deprivation. Methods: Functional magnetic resonance imaging (fMRI) was carried out on 3 children (ages 8-
10yo) and one adult (35yo) in the study, long after injection of AAV2-hRPE65v2. Full-field flickering
stimuli were presented at 3 levels of contrast to each eye individually. Results: fMRI results showed increased cortical activations after stimulus presentation to the
treated eye only in all subjectsThere was close correlation between the predicted field maps from
the injection site and distribution of treated eye cortical activations. Conclusion: This study shows that severe, long term (up to 35 years) visual impairment in LCA-
RPE65 does not alter the integrity or responsiveness of neurons in the visual cortex. Gene therapy
results in sustained, improved visual ability as reflected by function of the visual cortex. The
challenges and issues surrounding extrapolation of the results of LCA-RPE65 gene therapy to
other pediatric retinal diseases will be discussed. Additional collaborators: Bart LeRoy, Alberto
Auricchio, Francesca Simonelli
Conflict of Interest: Yes, Co-author on a pending patent, "Method of treating or retarding the development of blindness"; However, waived any potential financial interest in 2002.
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts - Lectures
27
L09: Molecular Therapy in Retinal Degenerations – What's in the Pipeline? Mathias W. Seeliger
Division of Ocular Neurodegeneration, Institute for Ophthalmic Research, Department of Ophthalmology, Eberhard-Karls-University of Tuebingen, Germany
Presented by Mathias Seeliger
Several lines of promising therapeutic strategies for retinal degenerations have been developed in
the immediate past years. So far, none has progressed as far as gene therapy. Nevertheless,
substantial advances have been made in other areas, and some examples will also be highlighted
in this presentation. Gene therapy, the main representative of curative approaches, has led to the
successful restoration of function using recombinant adeno-associated viral vectors (rAAV) but
also lentiviral vectors (LV), and has in the case of RPE65 culminated in human clinical trials. Based
on proof-of-principle studies in animal models, some other candidates for human gene transfer like
X-linked retinoschisis and achromatopsia now come to the fore. Some symptomatic approaches
aim at more central structures of the visual system that degenerate late in the course of a disease,
like the use of halorhodopsin to make bipolar and ganglion cells intrinsically light sensitive. Other
attempts try to retard the disease process by slow release of neuroprotective factors. The rescue of
vision requires however an adequate functional and morphological assessment at different sites
along the visual pathway. For retinal degenerations, optical coherence tomography (OCT) and
electroretinography (ERG) appear best suited for the clinical and experimental follow-up. However,
as the application of treatment commonly leads to local differences in functionality, novel concepts
and/or techniques to take care of the topographic differences may be required.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts - Lectures
28
L10: Misrouting of the Optic Nerves – the Visual Cortex Keeps Track of Abnormal Tracks! Michael Hoffmann
Visual Processing Lab, Ophthalmic Department, Otto-von-Guericke-University Magdeburg, Germany
Presented by Michael Hoffmann
The human visual cortex of each hemisphere receives binocular input from the respective
contralateral visual hemifield. The partial decussation of the optic nerves at the optic chiasm is an
indispensable prerequisite for this cortical visual field representation. In patients with albinism and
achiasmia this projection pattern is disturbed such that the visual cortex receives an additional
input of the ipsilateral hemifield [1,2]. The actual projection error of the optic nerves is entirely
different in the two patient groups. In albinism it is a part of the temporal, in achiasmia it is the
nasal retina that is abnormally represented. Investigating the integration of these abnormal visual
field representations for visual processing using functional magnetic resonance imaging offers
unique insights into fundamental principles and mechanisms in self- and reorganisation of the
human visual cortex. Here, the retinotopic organisation of the visual cortex is compared between
patients with albinism or achiasmia and the following features are common for both conditions of
misrouted optic nerves: (1) Large scale congenitally abnormal input is represented as a retinotopic
map. (2) The abnormal map is superimposed onto the normal retinotopic map, such that mirror-
symmetrical visual field positions along the central vertical meridian are represented in close
vicinity. (3) Visual field tests demonstrate the relevance of the abnormal visual field representation
for visual perception. This indicates the plasticity not only of early, but also of higher tier visual
areas [3]. These findings demonstrate that in humans with albinism and with achiasmia the
abnormal input to the visual cortex is accommodated in a similar way. Thus, the mechanisms
governing the accommodation of the abnormal input to the visual cortex appear to be independent
of the nature and the origin of the abnormal input. In conclusion, the observed specific mapping of
large-scale congenitally abnormal input to the visual cortex appears to reflect a general principle to
make the abnormal visual input available for cortical processing in humans. References: [1]
Hoffmann MB et al. (2003) Organisation of the visual cortex in human albinism. J Neurosci 23:
8921-8930 [2] Apkarian et al. (1995). Non-decussating retinal-fugal fibre syndrome. Brain 1995;
118: 1195–216. [3] Hoffmann MB et al. (2007) Perceptual relevance of abnormal visual field
representations. Brit J Ophthalmol 91: 509-513
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts - Lectures
29
L11: Ectopic Ribbon Synapse Formation in the Outer Retina of Mutant Mice Lacking Functional Rods and Cones Silke Haverkamp1, Isabella Spiwoks-Becker2, Karin Schäferhoff3, Michael Bonin3, Martin Biel4,
Stylianos Michalakis4
1Max-Planck-Institute for Brain Research, Frankfurt/M, 2Johannes Gutenberg University, Mainz, 3Microarray Facility, Tuebingen, 4LMU Muenchen
Presented by Silke Haverkamp
Introduction: At the first chemical synapse of the mammalian retina, rod photoreceptors transfer
light signals to rod bipolar cells and horizontal cells. After loss of rod photoreceptor function,
postsynaptic partners respond by extending neurites into the outer nuclear layer (ONL). In order to
study this plasticity in detail and to evaluate how the cone pathway influences this response, we
analyzed horizontal cell sprouting in mouse lines with targeted deletions of CNGA3 and/or CNGB1.
These genes encode essential subunits of the cone or rod cyclic nucleotide-gated channels, and
are indispensable for normal function of the respective photoreceptor class. Methods: The developmental time course of the outgrowth of horizontal cell processes and the
formation of ectopic synapses was studied by immunocytchemistry and confocal laser scanning
microscopy. Microarray-based gene expression analysis was performed using Affymetrix Mouse
Genome 430 2.0 Arrays. Results: In CNGA3/B1 double knockouts, horizontal cell sprouting into the ONL was first observed
around postnatal day 12. At first, the horizontal cell outgrowths seemed to have no apparent target.
Two weeks later, the number of sprouting processes decreased, but the remaining sprouts
developed synapse-like contacts in the ONL. The ultrastructural appearance of ectopic ribbon
synapses at the base of rod somata within the ONL strongly suggests the formation of new
synapses due to neuronal growth. To identify molecules involved in the induction of horizontal cell
sprouting, we compared global retinal gene expression in CNGB1 single and CNGA3/B1 double
knockouts at P12. We found differential expression of several genes implicated in formation,
outgrowth and guidance of axons and neurites. Importantly, we found by immunolabeling that
upregulated candidates localized to or in close proximity to horizontal cell neurites extending into
the outer nuclear layer. Conclusion: These results may help to elucidate the molecular events leading to cell sprouting
and synaptic plasticity in the diseased retina.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts - Lectures
30
L12: Pediatric Retinal Imaging: The Future is Here! David Wallace, Ramiro Maldonado, Sharon Freedman, Sina Farsiu, Cynthia Toth
Duke Eye Center
Presented by David Wallace
In the past decade, there have been a number of important technological advancements that have
improved our ability to image and analyze the pediatric retina, including video indirect
ophthalmoscopy, high-quality retinal photography, computer-assisted analysis of plus disease, and
the application of spectral-domain ocular coherence tomography (SD-OCT) to infants and children.
Improvements in video indirect ophthalmoscopy have allowed acquisition of very good quality still
images during routine bedside screening examinations. Newly developed image processing
methods have created panoramic montages using multiple video indirect images from a single eye.
Images that have lower quality can be processed to improve their quality sufficiently to allow
automated analysis of retinal features. The RetCam camera, which has for years allowed
acquisition of still images of very high quality, now has improved portability with the development of
the RetCam Shuttle. High-quality retinal images from multiple sources can be analyzed using
computer software such as ROPtool to quantify the degree of vascular dilation and tortuosity.
ROPtool now has a clinically meaningful overall measure of “plusness” that combines values for
dilation and tortuosity. In addition, its application as a real-time second opinion for plus disease
diagnosis is being piloted at the bedside. Finally, application of spectral-domain optical coherence
tomography (SD-OCT) has revealed new insights into pediatric retinal development and pathology.
Human foveal development has for the first time been observed in vivo using SD-OCT. In infants
with retinopathy of prematurity (ROP), SD-OCT has revealed a myriad of retinal changes that are
not evident by indirect ophthalmoscopy, including macular edema and cysts, epiretinal tissue and
membranes, and retinoschisis. This imaging modality is also useful to visualize the extent of retinal
detachment and presence of epiretinal membranes, providing retinal surgeons with key information
that influences surgical intervention. In years to come, our paradigm of ROP screening and
treatment will evolve considerably based on continued advances in imaging techniques,
preventative strategies, and therapeutic interventions.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Paper Presentations
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T01: Funding of an Ophthalmic NGO in an Emerging Economy Raymond Brown
University Hospital of North Staffordshire
Presented by Raymond Brown
Introduction: Funding of an Ophthalmic NGO in an emerging economy; a personal experience.
Paraguay, in South America is a country where the health care is, in some ways, half way between
the devastating need seen in sub-saharan Africa and the relatively comprehensive healthcare
offered in Europe and the USA. It has a stable political base in which to develop a paediatric
ophthalmology training, while at the same time has a large population without easy access to
health care. I have been fortunate to have worked with Fundación Visión in Asunción, for a few
weeks in each of the past 8 years and have seen its development both in infrastructure, the
training offered and in the scope of treatment. I have been impressed by the innovative ways that
have been found to fund the programme and have put together my impression of the various
methods by which the NGO funds itself from local sources. In addition to local income, an NGO in
a developing country can access a number of different international sources of funding. There are
ways of doing this which increase the NGO's chances of obtaining these funds. The third arm of
funding work in a developing country is, what funds can an ophthalmologist in Europe provide and
how? I discuss my experiences of this and how my own small NGO in the UK raises money to
support Fundación Visión and the, sometimes difficult, decisions to be made as how to best spend
this money.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Paper Presentations
33
T02: The Giessen Experience with Anti-VEGF Therapy for APROP Birgit Lorenz
Department of Ophthalmology, Universitaetsklinikum Giessen and Marburg GmbH, Giessen, Germany
Presented by Birgit Lorenz
Background and Purpose Aggressive posterior retinopathy of prematurity APROP carries the worst
prognosis as to structural and functional outcome. Laser therapy has limited success. Intravitreal
anti-VEGF therapy that is currently evaluated in several multicenter studies could be a better
alternative. Methods Analysis of the actual literature on anti-VEGF therapy in acute ROP. Wide-
field-digital imaging of anterior and posterior segment and serial fluorescein angiography (FLA)
with a RetCAM II (Clarity, Pleasanton, USA) in infants with APROP. Results Three extreme
prematures (GA 22 to 24+5 wks, BW 380 - 770g) with APROP received a single dose of
bevacizumab intravitreally (Avastin®, two 0.312 mg/eye; one 0.625 mg/eye) 1.5 mm posterior to
the limbus at PMA 32 - 34 wks. Regression of hyperaemic and persistent tunica vasculosa lentis
anterior occurred within days, regression of APROP with further vascularisation of the peripheral
retina within several weeks. FLA visualised continuing physiological vascularisation to the
peripheral retina and absence of pathological exudation. Conclusions The positive Giessen
experience corroborates the positive results from larger multicenter studies. Single doses of
intravitreal bevacizimab alone are capable not only to induce regression of APROP but also results
in further maturation of the normal retinal vascularisation. However, because of the lack of long-
term results the authors recommend to limit the use of anti-VEGF to APROP as less aggressive
forms of acute ROP have a success rate of > 95% with conventional laser therapy.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Paper Presentations
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T03: Outcome of Adjunctive Intravitreal Bevacizumab Combined with Laser Indirect Ophthalmolscopy for Treatment of ROP Phanthipha Wongwai
Khon Kaen University
Presented by Phanthipha Wongwai
Objective: To evaluate outcome of combine intravitral Bevacizumab with laser indirect
ophthalmoscopy for treatment of ROP Design: Historical cohort study Method: Data was collected
at 1 year followed-up after treatment of ROP with combine laser and intravitreal Bevacizumab. Results: 40 newborns (80 eyes) diagnosed ROP were treated with combine intravitral
Bevacizumab and laser. Mean gestational age was 30.36 (25-34 week), mean birth-weight was
1254.64 (770-1900g), mean age of diagnosed ROP was 7.46 (2-16 wk), the majority of the patient
was diagnosed stage 3 zone II ROP with plus disease. Regression was found in 73 eyes (91%),
progression to Stage IV 5 eyes (6%) and 1 patient was died due to RDS. In regressed ROP 73
eyes, myopia within -2.00 D was found in majority of the patient, no strabismus and all of them
were good fixed and followed. No unanticipated adverse event from the treatment. Conclusion: Outcome of combine intravitral Bevacizumab and laser in ROP was preferable,
however long term followed up and randomized control trial are necessary to prove the
effectiveness
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Paper Presentations
35
T04: PDZD7 is a Modifier of Retinal Disease and a Contributor to Digenic Usher Syndrome Hanno Bolz1, Jennifer Phillips2, Max Liebau3, Inga Ebermann4, Monte Westerfield2, Thomas
Benzing3
1a) Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany b) Center for Human Genetics, Bioscientia, Ingelheim, Germany, 2Institute of Neuroscience, University of Oregon, Eugene, Oregon, USA, 3Department of Medicine and Centre for Molecular Medicine, University Hospital of Cologne, Cologne, Germany, 4Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany
Presented by Hanno J. Bolz
Introduction: Usher syndrome is a genetically heterogeneous recessive disease with hearing loss
and retinitis pigmentosa (RP). It frequently presents with unexplained, often intrafamilial, variability
of the visual phenotype. Methods: We cloned human and zebrafish PDZD7 and characterized the proteins by
immunohistochemistry and interaction studies. Human genotypes were validated using zebrafish. Results: We demonstrate interaction between PDZD7 and GPR98 (USH2C) and USH2A, and
their colocalization in the photoreceptor’s connecting cilium region. On a homozygous USH2A
mutation background, PDZD7 aggravates RP. Heterozygous PDZD7 mutations were present with
truncating mutations in USH2A, GPR98, and an unidentified locus. Knockdown studies in zebrafish
were consistent with digenic inheritance of PDZD7 and GPR98, and with PDZD7 as a retinal
disease modifier in USH2A patients. Pdzd7 knockdown produced an Usher-like phenotype in
zebrafish, exacerbated retinal cell death in combination with ush2a or gpr98, and significantly
reduced Gpr98 localization in the region of the photoreceptor connecting cilium. Conclusion: Our data challenge the view of Usher syndrome as a traditional Mendelian disorder.
As in Bardet-Biedl syndrome, reclassification of Usher syndrome as an oligogenic disease permits
a better understanding of its phenotypic variability. With the advance of new DNA technologies
such as next-generation sequencing, similar constellations may be discovered for a number of
other recessive diseases.
Conflict of Interest: Yes, H.J.B. may appear to have a conflict of interest because he currently works for the Bioscientia Center for Human Genetics, which is part of a publicly traded diagnostic company. He is still actively engaged in research and teaching at the University Hospital Author does not allow recording of the presentation.
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Paper Presentations
36
T05: How Many Genes for Bardet-Biedl Syndrome? Dollfus Hélène1, Schaefer Elise1, Vincent Marie-Claire2, Muller Jean2, Mandel Jean-Louis3, Stoetzel
Corinne1
1Laboratoire Avenir Inserm EA 3949, Faculté de Médecine, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., 2Laboratoire de Diagnostic génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg France, 3IGBMC, Illkirch-Graffenstaden, France
Presented by Hélène Dollfus
Bardet-Biedl syndrome (BBS) is a syndromic early-onset retinitis pigmentosa associated with
obesity, polydactyly, cognitive impairment and kidney dysfunction related to primary cilia
dysfunction. This autosomal recessive condition is characterized by genetic heterogeneity that
challenges rapid molecular confirmation of the clinical diagnosis as well as prenatal diagnosis. To
date, fifteen genes have been reported to be related to the BBS ciliopathy phenotype, the last of
which is the very recent result of a international collaborative work that reveals a switch from
classical homozygosity mapping to exome capture approaches. We will summarize the overall
mutational load found in the French BBS study group series compared to other groups and
question whereas all the BBS genes have been identified or not?
Conflict of Interest: None Author does not allow recording of the presentation.
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Paper Presentations
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T06: Evaluation of AAV Mediated Gene Therapy for RPE65 Patients by Highly Sensitive Psychophysical Techniques Knut Stieger, Markus Preising, Christoph Friedburg, Elisabeth Strohmayr, Steffen Zahn, Birgit
Lorenz
Department of Ophthalmology, Justus Liebig University, Giessen, Germany
Presented by Knut Stieger
Introduction: The University Hospital of the University of Nantes is currently preparing a phase I
clinical trial for AAV mediated gene therapy for patients with early onset severe retinal dystrophy
(EOSRD) due to mutations in the RPE65 gene (www.clinical-trials.gov; patient screening:
NCT00422721). Therapeutic efficacy of the treatment has been difficult to demonstrate in
published clinical trials from the US and United Kingdom, as electroretinogram recordings and
other objective measurements continued to be below threshold values. Highly sensitive
psychophysical techniques represent an improvement to reliably quantify the lowest levels of visual
perception, but are only of limited availability. In this study, the ten patients that are going to be
enrolled in the initial phase I clinical trial in Nantes, will be evaluated by two-color threshold
perimetry, full field stimulus testing, chromatic pupillometry and spectral domain OCT at the
Department of Ophthalmology in Giessen before and after treatment by an
AAV2/4.hRPE65.RPE65 gene therapy. Methods: The Department of Ophthalmology in Giessen possesses profound experience using a
two-color threshold perimeter (modified Humphrey field analyzer (HFA), which is not available at
the Department of Ophthalmology in Nantes. Full field stimulus testing is going to be performed
with a diagnosys espion E2 aparatus (Diagnosys LLC) modified for red, blue and white light stimuli.
In addition, a newly developed binocular chromatic pupillometer (AMTech, and Diagnosys
Colordome Ganzfeld stimulator) will be used to assess changes in the diameter of the pupil in
response to light. A Heidelberg Spectralis OCT will be used to visualize the morphology of the
retina. Results: The four examination techniques have been set up and evaluated with normal patients in
order to generate normal ranges for human subjects. Conclusion: Once the clinical trial in Nantes has been started, patients can be evaluated pre and
post operation at the Department of Ophthalmology in Giessen.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Paper Presentations
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T07: Novel S/MAR Vectors Provide a Non-Viral Gene Therapy for Choroideraemia Mariya Moosajee, Elham Ostad-Saffari, Dhani Tracey-White, Miguel Seabra, Richard Harbottle
Molecular Medicine, Imperial College London, United Kingdom
Presented by Mariya Moosajee
Introduction: Non-viral gene therapy vectors are attractive alternatives to viral-based delivery
systems due to their low toxicity and reduced immunogenicity. Recently, a novel plasmid vector
was developed employing a human scaffold/matrix attachment region (S/MAR) to provide
functional episomal persistence within cells. Choroideraemia is an X-linked recessive disorder
caused by mutations in the REP1 (Rab escort protein 1) gene. This progressive chorioretinal
dystrophy has no effective treatment. We investigate whether non-viral S/MAR vectors can provide
persistent REP1 expression in the retina, and thus develop a potential gene therapy for
choroideraemia. Methods: Generation of S-MAR vectors containing either REP1 cDNA, or reporter eGFP and
luciferase genes, driven by the human elongation factor 1 short (EFS) or ubiquitin-C promoter.
DNA was formulated with cationic polymer linear polyethylenimine (DNA: PEI) and 2 µl was
injected subretinally into one eye of each MF-1 mouse (4-6 weeks old), the contralateral eye
served as a control (n=50). The temporal expression of luciferase was followed utilising in vivo
bioluminescent imaging. Histological and immunofluorescence analysis was used to evaluate
integration of the vector within the retina. Results: DNA: PEI complexes were successfully delivered to the eye via subretinal injection.
Once-only vector administration demonstrated persistent episomal transgene expression for up to
6 months. Expression of the transgene was localised to the RPE, confirmed by
immunofluorescence of retinal histology. Conclusion: The novel S-MAR vector shows effective gene delivery to the RPE with long-term
expression of REP1. This non-viral gene therapy may provide a potential treatment for
choroideraemia, with application to other genetic retinal diseases.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Paper Presentations
39
T08: Our Experience with Paediatric Aphakic Glaucoma Alicia Serra1, Marta Morales1, Marta Garcia1
1Hospital de Sant Joan de Deu, Barcelona, 2Hospital de Sant Pau, Barcelona
Presented by Alicia Serra
Purpose: To evaluate the clinical and therapeutic characteristics of Paediatric Aphakic Glaucoma
(PAG) Methods: Retrospective study in 26 patients (37 eyes) diagnosed of PAG from 1988. We analyse
the following characteristics: age at surgery of cataracts, type and etiology of cataracts, time from
surgery and the beginning of glaucoma, response to medical and surgical treatment, and VA at the
end of follow-up. In patients operated of cataracts after 1995 (13 patients, 19 eyes) we calculate
the incidence of glaucoma for each etiology of cataract Results: The etiology of cataracts was idiopatic in 13 patients, familial in 7, associated to
Persistance of Fetal Vasculature in 3, to neurologic retardation in 2 and evolutive in 1 patient.
32/37 were bilateral cataracts, 12/37 associated to microftalmia. The age at surgery of cataracts
ranged from 1 to 56 months, mean 7.5m, with 78% of the eyes operated before 6m of age and only
13% operated after 1 year. Time from surgery and the beginning of glaucoma ranged from 1 month
to 12 years, 9/37 of the eyes before 1 year. All the eyes received medical treatment after diagnosis
of PAG. In 16 eyes it has been enough to control the disease for a period ranged from 1 to 15
years (mean 6,8y). But 21/37 of the eyes needed surgical treatment 5m to 15y after diagnosis
(mean 5y). 6 Trabeculectomies were performed in 5 eyes, in 4/6 failed during the first year. Valves
were implanted in 14 eyes: 10 are working well without medical treatment from 1 to 6 years after
implantacion, 3 needed medical treatment after 1 to 3 years of postop, and in one case a vitreous
haemorraghe and ptisis bulbi occurred in the first weeks post op. Laser diode
ciclophotocoagulation was performd in 7 eyes, in all of them the hypotensive effect was transitory
(< 6m). Visual acuity at the end of follow-up ranged from no LP to 8/10, with 9 eyes being legally
blind. Conclusions: PAG is a frequent and severe complication of cataract surgery. Early detection and
treatment is necessary to prevent loss of vision, although the prognosis may be poor in some
cases. Medical treatment is able to control the disease in most cases, at least for the first years.
Surgery of PAG has better results with valves than with Trabeculectomy.
Conflict of Interest: None Author does not allow recording of the presentation.
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Paper Presentations
40
T09: Corneal Endothelial Cell Density after Artisan Aphakia IOL Implantation for Crystalline Lens Subluxation in Marfan Syndrome. Marije Sminia1, Liesbeth Prick1, Monica Odenthal2
1Academic Medical Centre, Amsterdam, The Netherlands, 2Diaconessenhuis, Leiden, The Netherlands
Presented by Marije Sminia
Introduction: In the absence of capsular support the Artisan® (Ophtec, Groningen, The
Netherlands) aphakia intraocular lens (IOL) can be used. For example in aphakia after surgery for
the (sub)luxation of the crystalline lens (i.a. Marfan syndrome) or traumatic cataract. In these cases
the Artisan aphakia IOL is preferred above implantation of angle supported or scleral sutured IOLs
in some European countries and there are reports about safe implantation of these lenses in
children. A point of concern with Artisan IOL implantation is corneal endothelial cell loss. Safety
with regard to the corneal endothelium is of great importance in the paediatric age group, because
of their long life expectancy Purpose: To report on the long term clinical outcome of 2 young female patients with Marfan
syndrome after Artisan aphakia IOL implantation for crystalline lens subluxation. And to compare
the corneal endothelial cell density (ECD) of these two patients with the ECD of an age matched
control group of patients with Marfan syndrome, without a history of intraocular surgery. Setting:
Academic Medical Centre, Amsterdam, The Netherlands Methods: A retrospective study was performed, evaluating the charts and endothelial photographs
of the two study patients (4 eyes), and 8 control patients (16 eyes). BSCVA, corneal diameter,
keratometry, axial eye length, anterior chamber depth, iris details, complications and intraocular
surgical procedures were reported. The main outcome measure was the endothelial cell density at
the last follow-up visit. Results: The youngest of the two study patients (case 1) was 4.4/ 5.3 years old at the time of
Artisan aphakia IOL implantation and 15.7 years at the last follow-up visit. The oldest of the two
study patients (case 2) was 9.2/11.8 years at the time of the IOL implant and 25 years old at the
last visit. The mean follow up of the 4 study eyes was 12.7 years (range 10.3 to 15.8 years). In all 4
study eyes a prophylactic or therapeutic cerclage was performed. The mean corneal endothelial
cell density in the four study eyes was 3045 cells/ mm² at the last follow up visit. The mean ECD in
the 16 control eyes was 2678 cells/mm². The mean coefficient of variation of cell size was 36.6 in
the study eyes and 27.1 in the control eyes. Details on the clinical outcome, ECD and CV of cell
size will be discussed during the presentation.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Paper Presentations
41
T10: New Treatment Modality of Combined (Local and Systemic) Retinoblastoma Chemotherapy. (First Results). Nadiya Bobrova
The V.P. Filatov Institute of Eye Diseases and Tissue Therapy
Presented by Nadiya Bobrova
Introduction: To work out the new treatment modality of combined local and systemic
retinoblastoma (RB) chemotherapy (CT). Methods: Combined CT: systemic chemoreduction (Carboplatin, Etoposide, Vincristin) [Shields C
et al, 1996] and local intravitreal Melphalan injection [Kaneko A, Suzuki S, 2003; 2004] was
conducted to 26 children (30 eyes) with RB at age 5mo/o - 6 y/o (mean age 27±12mo). According
TNM WHO classification Т3 stage RB was on majority of eyes (19), Т2 was on 7 eyes and Т1 -
only on 4. Tumor invasion to the vitreous and vitreal seeds were found on 17 eyes with a various
T-stage. Unilateral RB was at 13 children, bilateral - at 13 (17 eyes). Additionally local tumour
destruction (cryo-, lasertherapy, plaque St-90 radiotherapy) - 11 eyes; external beam radiotherapy
– 4 eyes, combination of different destructive methods (4) were used. Follow up 2 - 10 months
(mean 4.6±2.1mo) has seen at 15 children (16 eyes). Results: No complications during intravitreal Melphalan injection and in postop were observed.
Positive effect after combined local and systemic CH was marked on 20 from 30 eyes already in 2-
4 weeks and consisted in reduction of size and prominence, fragmentation, calcination or scarring
of the big tumors, resorbtion of the small retinal focuses and vitreal seeds, provided repeated local
Melphalan chemotherapy on 9 eyes. 14 children continued systemic chemoreduction, 2 patients
with multifocal tumor growth have received EBRT, 1 has continued supervision. In follow up partial
and total tumor regress was marked on 13 from 16 eyes. 3eyes with Т3 RB were enucleated
caused by the progressive tumor growth (1), hemophthalmos (1), uveitis with vitreous opacification
and retinal detachment (1). Pathohystological examination in all cases verified RB with expressed
tumor necrosis, no tumour cells spreading through the injections channels and in eye coats was
found, total tumour necrosis and calcinations in one eye with uveitis was marked. Total tumor
regress and calcination diagnosed on 3 eyes with RB Т3а. The best results of combined CT were
occurred in 5 cases of primary intravitreal Melphalan injection with subsequent chemoreduction. Conclusion: Combined CT - intravitreal Melphalan injection and systemic chemoreduction - is
perspective modality of RB salvage globe treatment.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Paper Presentations
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T11: Ranibizumab (Lucentis®) in the Management of Late-Stage Coats’ Disease Marie-Claire Gaillard, Aubin Balmer, Francis L. Munier
Hôpital Ophtalmique Jules Gonin, Lausanne, Switzerland
Presented by Marie-Claire Gaillard
Introduction: Coats’ disease is characterized by idiopathic telangiectasia with lipid exudates, and
by retinal ischemia. Advanced cases develop total retinal detachment (stage 3B) and iris
neovascularization with glaucoma (stage 4). Globe salvage depends on the destruction of the
telangiectasia by laser photocoagulation and cryoablation of the ischemic retina, inapplicable at
late-stage disease because of retinal detachment or poor dilatation due to rubeosis iridis. Methods: Between 2006 and 2010, 8 consecutive cases of Coats’ disease stage 3B (4 cases) and
4 (4 cases) received 1 or more intravitreal injections of 0.5 ml ranibizumab after parental and
Swissmedic consent to off-label use. In 3 cases with bullous detachment filling the vitreous cavity,
subretinal fluid drainage by sclerotomy was performed. The mean age at diagnosis was 17.9
months (range 1-43 months). After treatment, ERG was recorded and amblyopia treatment
attempted in a subset of patients (n=4 and 6 respectively). The mean follow-up was 25.5 months. Results: There were no ocular or systemic side effects. Rubeosis iridis disappeared during the first
week and retinal reattachment occurred within 4 months post-injection in all patients, rendering the
pathological vessels and ischemic retina accessible to conventional therapy. Ten months after
complete reattachment of the retina, one patient developed severe fibrous vitreo-retinopathy
evolving to tractional retinal detachment. Amblyopia treatment restored measurable visual acuity to
0.25 in 1 stage 4 patient. Scotopic ERG displayed flat recording in 3 patients, and reduced
amplitudes in 1. Dysfunction of photopic ERG was severe in the 3 cases with flat scotopic ERG
and mild in the last child. Conclusion: Anti-VEGF therapy in management of Coats’ disease has recently been reported in 9
distinct publications totalizing 13 patients including only 3 with advanced disease (2 stage 3B,
1stage 4). Our study is the largest series of stage 4 and 3B Coats’ disease treated by anti-VEGF. It
suggests that ranibizumab is well-tolerated in young children with advanced disease. Ranibizumab
facilitates the management by suppressing iris neovessels in stage 4, and decreasing
telangectasia exudation. In the literature, enucleation is reported to be required in 78% of stage 4
and 7% of stage 3A and B cases. In our study anatomic preservation could be obtained in all
patients, with a good visual outcome in 1 case.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Paper Presentations
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T12: Phase 3, Prospective, 12-Week, Double-Masked, Multicentre Study of Latanoprost (LAT) and Timolol (TIM) in Paediatric Glaucomas: Age and Diagnosis Subgroup Analysis Tomoko Maeda-Chubachi1, Katherine S Chi-Burris1, Barbara Wirostko2, Dominique Brémond-
Gignac3, Sharon F Freedman4, Peng T Khaw5
1Pfizer Inc, La Jolla, CA, USA, 2University of Utah, Salt Lake City, UT, USA, 3Ophthalmology, University Hospital of Amiens, Amiens, France, 4Duke University, Durham, NC, USA, 5NIHR BRC Moorfields Eye Hosp & UCL Inst Ophthalmology, London, UK
Presented by Tomoko Maeda-Chubachi
Purpose: To provide clinical guidance to ophthalmologists treating pediatric glaucoma from results
of a clinical trial. Methods: Subjects ≤18 years old with glaucoma in ≥1 eye were stratified by age (0 -<3; 3-<12; 12-
18 yrs), diagnosis (primary congenital glaucoma [PCG] vs nonPCG), and IOP, and were
randomised (1: 1) to LAT vehicle (8 AM) and LAT 0.005% (8 PM) or TIM 0.5% (or 0.25% for those
<3 years old; 8 AM and 8 PM). At baseline, weeks 1, 4, and 12, IOP and ocular safety
assessments were performed, and adverse events were recorded. Exploratory analyses were
performed in age- and diagnosis-specific groups (ITT population). Results: 137 subjects were treated (0-<3 yrs, n=34; 3-<12 yrs, n=55; 12-18 yrs, n=48). Mean IOP
reductions (% reduction) at week 12 were LAT 7.0 mmHg (25%) vs TIM 6.0 mmHg (22%). Mean
IOP reductions in PCG subgroup were LAT 6.0 (22%) vs TIM 5.1 mmHg (19%) and in non-PCG
subgroup were LAT 7.9 (28%) vs TIM 6.7 mmHg (24%), respectively. Mean IOP reductions by age
group were: LAT 5.8 (21%) vs TIM 2.6 mmHg (9%) for 0-<3 yrs; LAT 6.4 (23%) vs TIM 7.3 mmHg
(26%) for 3-<12 yrs; LAT 8.5 (31%) vs TIM 6.8 mmHg (25%) for 12-18 yrs. For PCG subjects with
a history of glaucoma surgery, mean IOP reductions were LAT 5.8 (22%) vs TIM 5.6 mmHg (22%)
in those with prior glaucoma surgery (n=27), and LAT 6.1 (23%) vs TIM 4.6 mmHg (16%) in those
without (n=35). For aphakic/pseudophakic subjects (n=17), mean IOP reductions were LAT 8.3
(27%) vs TIM 10.6 mmHg (31%); while for JOAG (n=40), mean IOP reductions were LAT 7.3
(28%) vs TIM 7.5 mmHg (28%). Both therapies were well tolerated. Conclusion: The study is limited by its relatively small sample size due to this rare disease making
it difficult to draw statistically significant conclusions. All age groups and diagnosis subgroups
showed >20% IOP reduction when treated with LAT. Both surgically naïve and post-glaucoma
surgical PCG subjects showed >20% IOP reduction with LAT.
Conflict of Interest: Yes, Employed by Pfizer Inc.
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Paper Presentations
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T13: Preliminary Results of Superselective Ophthalmic Artery Chemotherapy (SOAC) in 14 Patients with Advanced Retinoblastoma Francis L. Munier1, Maja Beck-Popovic2, Marie-Claire Gaillard1, Aubin Balmer1, Stefano Binaghi3
1Jules Gonin Eye Hospital, Lausanne, Switzerland, 2Unit of Pediatric Hemato-Oncology, CHUV, Lausanne, Switzerland, 3Radiology Department, Neuroradiology Unit, CHUV, Lausanne, Switzerland
Presented by Francis L. Munier
Background: Superselective ophthalmic artery chemotherapy (SOAC) has been proposed as an
alternative to intravenous chemoreduction for advanced intraocular retinoblastoma. Results of a
recent Phase I/II trial appear promising in terms of tumor control and eye conservation. However
little attention was paid to ocular toxicity and visual prognosis. We report the preliminary results in
our initial cohort of 14 patients.
Patients and Method: We retrospectively reviewed the charts of 14 consecutive retinoblastoma
cases who received a total of 32 injections of Melphalan in the ophthalmic artery between
November 2008 and July 2010. In these patients, SOAC was indicated only as an alternative to
enucleation or external beam radiotherapy (EBR). Retcam and fluorescein angiography were
performed at presentation and before each injection. Best corrected visual acuity was assessed at
the latest visit following amblyopia therapy as necessary. Results: Success rate of ophthalmic artery cannulation was 94.1% (32/34). The 2 failures to inject
were due to transient internal carotid spasm and absence of ophthalmic artery originating from
internal carotid artery respectively. There was no stroke or other systemic complications.
Haematological toxicity did not exceed grade 1. No hair loss occurred. Enucleation and external
beam radiotherapy could be avoided in all cases but one who, despite regression, required EBR
for a persistent papillary tumor in his only eye. The mean follow-up of 7.5 months. Sectoral
occlusive choroidal vasculopathy was observed in two eyes (14%), and retinal arteriolar emboli in
one eye. Among the 10 eyes available for visual testing. At presentation the macula was affected
in 4/10 eyes (vision range 0.012 to 0.2) and not affected in 6/10 eyes(vision range: 0.05-0.63). Discussion: SOAC was effective and safe in all patients with no strokes or other systemic
vascular complications, while systemic toxicity remained subclinical. Unlike intravenous
chemoreduction, SOAC can be associated with sectoral chorioretinal atrophy secondary to
subacute choroidal occlusive vasculopathy. Further studies are required to better appreciate the
frequency and severity of SOAC-related vascular ocular complications and how they functionally
correlate. In the mean time we strongly recommend that indications for SOAC should be performed
in one eye only and restricted to advanced retinoblastoma, as first line or salvage alternative to
enucleation or external beam radiotherapy.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Paper Presentations
45
T14: Orbital Tumors in Children Anton Gerinec1, Kristína Husáková2
1Pediatric Ophthal.Dept.,Children University Hospital Bratislava, 2Pediatric Oncology Dept. Children University Hospital Bratislava
Presented by Anton Gerinec
Purpose: To estimate the treatment efficacy in several main clinical forms of orbital tumors in
children.The analysed tumors were capillary hemangiomas,optic nerve gliomas and
rhabdomysarcomas. Material and Methods: The group of 63 patients treated on Pediatric Ophthalmology and Oncology Dept. in
University Children Hospital in Bratislava from year 2000 has been analysed.In 25 capillary
hemangiomas treated especially by steroids, surgery and alfa interferon was introduced in the year
2009 beta blocker propranol. It was systemically administered in 12 small infants. Optic nerve
glioma in NF-1 requiered multidisciplinary collaboration in 23 children.By its progression in to
chiasma was performed in 10 older children radicaly optic nerve resection from chiasma.In 8
patients affected only by chiasmatic glioma was used chemotherapy and 5 small children with
initial optic nerve glioma discovered by screening are folloved without treatment.Orbital
rhabdomyosarcoma was treated in 15 children by surgery,chemotherapy and radiotherapy. Results: In hemangiomas were achieved very slowly size reduction by application of steroids in all
tumors .Very rapid effect has been observed in infants by administering of propranolol.Resection of
optic nerve from chiasma stopped progression of glioma and escaped visual function of the healthy
eye.Chiasmatic gliomas by using chemotherapy are stable and initial optic nerve gliomas in small
children during several years observation have negligible progress with good visual functions.All
patients with rhabdomyosarcoma had embryonal type and during 10 years observation remain
87,3% survivors with preservation of the eyeglobe . Conclusion: The good results in orbital tumors care in children were achieved by compliance of
principle of the eye globe and motility preservation in orbital surgery and prophylaxy of amblyopia
by rapid treatment of capillary hemangioma. The multidisciplinary collaboration was important and
necessary.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Paper Presentations
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T15: Screening for Retinopathy of Prematurity in Infants Born Before 27 Weeks of Gestation in Sweden Dordi Austeng1, Ann Hellström2, Peter Jakobsson3, Kristina Tornqvist4, Agneta Wallin5, Gerd
Holmström1
1Uppsala University, Sweden, 2University of Gothenburg, Sweden, 3Linköping University, Sweden, 4Lund University, Sweden, 5St. Erik's Eye Hospital, Sweden
Presented by Dordi Austeng
Introduction: The number of extremely preterm infants has increased the last decade giving us a
larger population of infants at risk of developing severe retinopathy of prematurity (ROP). The
purpose of this paper is discussing screening routines for ROP of infants born before 27 weeks of
gestation. Methods: A national prospective study of neonatal morbidity in infants born before 27 weeks of
gestation was performed in Sweden between 2004 and 2007. Screening for ROP was to start in
the fifth postnatal week and to continue weekly until complete vascularization of the retina or until
regression of ROP. The Early Treatment for ROP recommendations were followed. Results: Onset of ROP 3 did not occur before postmenstrual age (PMA) 31 weeks and criteria for
treatment were not reached before PMA 32 weeks. The age at onset of ROP and the risk of
reaching treatment criteria were related to gestational age (GA) at birth. We also found that early
onset of ROP was related to more severe ROP, even after adjustment for GA at birth. Conclusion: The purpose of screening is timely detection of ROP 3. Based on our findings we
propose modifications of guidelines for ROP screening, both regarding the start of screening and
the screening intensity.
Conflict of Interest: None Author does not allow recording of the presentation.
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Paper Presentations
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T16: The Incidence of Visual Impairment Due to ROP and Their Concomitant Disabilities in the Netherlands. A Thirty Year Overview. Nicoline Schalij-Delfos1, Arlette Van Sorge1, Jacqueline Termote2
1Dpt of Ophthalmology, LUMC, Leiden, the Netherlands, 2Dpt of Neonatology, WKZ-UMCU, Utrecht, the Netherlands
Presented by Nicoline Schalij-Delfos
Introduction: Retrospective study to determine the incidence of visual impairment (VI) caused by
Retinopathy of Prematurity (ROP) and the incidence of associated disabilities in preterm neonates
born between 2000 and 2009 in The Netherlands and compare data to three previous studies
conducted from 1975 to 2000. Methods: Neonatal, developmental and ophthalmological data of children born between January
1, 2000 and December 31, 2008 were retrieved from the Dutch institutes for the partially sighted
and blind. To monitor trends data were compared to three previous Dutch studies conducted
between 1975-1987, 1986-1994 and 1994-2000. Results: Records of 43 infants born between 2000 and 2009 with VI due to ROP were found, 42
infants (97.7%) could be included in the study. In comparison with the previous surveys
significantly less children were visually impaired due to ROP (1.84 per 100.000 live births per year
in 2000-2009 vs 3.93 per 100.000 in 1994-2000 p=0.000). The incidence of infants that were
completely blind declined from 27,5% in 1994-2000 to 7,1% in 2000-2009 (p<0,05). Incidence of
concomitant as well as multiple disabilities remained the same compared to the previous study.
Comparing data of the four studies a gradual decrease of gestational age, birth weight and visual
impairment over the years was found whereas an increase of duration of artificial ventilation and
supplementary oxygen administration as well as bronchopulmonary dysplasia (BPD),
developmental delay and behavioral abnormalities can be seen. The turning point being
somewhere in the mid-eighties / nineties. The percentage of infants who received acute-phase
ROP treatment increased from 56,9% in 1994-2000 to 66,7% in 2000-2009 (ns). Conclusion: This study (2000-2009)shows a decrease in the incidence of VI caused by ROP in
the Netherlands. The incidence of concomitant disabilities did not change significantly compared to
the previous study. Comparing data from 1975 onwards the most marked changes were seen in
the mid-eighties and the nineties. Still 33.3% of the infants registered at one of the Institutes for the
partially sighted or blind did not receive acute-phase ROP treatment.
Conflict of Interest: None Author does not allow recording of the presentation.
36th Annual Meeting of the European Paediatric Ophthalmological Society
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T17: Preliminary Results of the NEDROP-Study: a National Inventory on Screening for Retinopathy of Prematurity. Arlette Van Sorge1, Jacqueline Termote2, Huib Simonsz3, Frank Kerkhoff4, Rene Van Rijn5,
Nicoline Schalij-Delfos1
1Leiden University Medical Centre, 2Wilhelmina Children’s Hospital / University Medical Centre Utrecht, 3Children’s Hospital Erasmus MC- Sophia, Rotterdam, 4Maxima Medical Centre, Veldhoven, 5VU University Medical Centre, Amsterdam
Presented by Arlette van Sorge
Introduction: Presentation of the preliminary year results of NEDROP-study, an inventory of the
present situation of ROP screening in the Netherlands. Methods: Pediatricians and neonatologists reported all infants that were born in 2009 and
complied with the inclusion criteria of the old National Guideline for ROP-screening (GA < 32 wks
and/or BW < 1500g). Ophthalmologists reported all children screened for ROP. A code was
developed to enable anonymous data transmission and coupling to the National Perinatal Registry
(PRN) to link neonatal risk factors for ROP with ophthalmological data, after completion of the
inventory phase. Results: Preliminary year results: a total of 2037 children were reported with a mean BW of 1324
gram and a mean GA of 30 weeks (wks). Data of 1790 infants were processed as 83 children
(4.1%) were lost to follow up and 164 children died (9%). Of these infants 1655 were screened
(92.4%). ROP was found in 317 children (19.2%): Stage 1 developed in 191 children (60.3%);
mean BW 1066 g, mean GA 28 3/7 wks. Stage 2 was seen in 96 children (30.3%); mean BW 940
g, mean GA of 27 5/7 wks and 24 children (7.6%) with stage 3; mean BW of 948 g, mean GA of 27
wks. Two children (0.6%) developed stage 4 ROP; mean BW 1223 g, mean GA of 30 5/7 wks and
2 children developed a grade 5; mean BW 600 g, mean GA of 25 5/7 wks. Plus disease was found
in 29 infants (9.2%). ROP was most seen between 26 and 29 weeks gestation (N=202) but there
were also 4 children above 32 weeks of gestation (32-34 wks). 16 children were treated for ROP
(5.1%). Conclusion: Preliminary results of the NEDROP study: Only 4.1% of children were lost to follow
up and 92.4% were screened for ROP. ROP developed in 19.2%. Severe ROP (stage ≥ 3) was
found in 28 children (8.8%) and was most common between 26 and 29 weeks of gestation, but
there was also 1 “big” child with stage 4. Sixteen infants (5.1%) were treated for ROP After closure
of the inventory phase coupling with the PRN will give more insight in the perinatal risk factors for
ROP.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Paper Presentations
49
T18: Five Year Visual Outcome of Children, Following Treatment with Diode Laser for Retinopathy of Prematurity Under Sub-Tenon’s Local Anaesthesia. J Kate Barnes, Manoj V Parulekar, Chetan K Patel
Oxford Eye Hospital, John Radcliffe Hospital
Presented by J Kate Barnes
Aim: To audit visual outcome at 5 years of age following laser treatment for threshold retinopathy
of prematurity (ROP) under sub-tenon’s local anaesthetic. Methods: A retrospective review of case notes was conducted, for 17 eyes of 9 neonates
receiving diode laser peripheral retinal ablation for threshold ROP using oral sedation and sub-
Tenon’s anaesthesia over a period of 30 months. 5 years following treatment outcome measures
recorded included logmar visual acuity, presence of myopia, astigmatism, strabismus, binocular
function and poor structural outcome. Myopia was defined as spherical equivalent >= 0.25 diopters
and high myopia >= 5.00 diopters. Astigmatism was defined as >= 1.00 diopter and high
astigmatism >= 2.00 diopters. Educational and social competencies were also considered. Results: Average logmar visual acuity was 0.359 (6/12 snellen equivalent), excluding one eye that
had no light perception. Snellen equivalent was 6/12 or better in 70.6% of cases and better than
6/60 in 88.2% of cases. Myopia was seen in 5/17 (29.4%) of eyes of which 3/17 (17.6%) had high
myopia. Astigmatism was seen in 5/17 (29.4%) of eyes of which 2/17 (11.8%) had high
astigmatism. 4/9 (44.4%) of patients had a squint present at the 5-year follow-up. Steropsis was
assessed using the Frisby test, with positive results in 5/9 (55.6%) of patients (results ranging from
85-300 seconds of arc). Structural abnormality was seen in 1 of the treated eyes. The affected eye
developed an inoperable tractional retinal detachment with dragged macula, resulting in no light
perception. Other ocular morbidity included 3 patients with nystagmus. Conclusion: Sub-tenon’s anaesthetic with oral sedation is a safe and effective technique for laser
treatment of threshold ROP in neonates and does not compromise structural and visual outcomes,
which are comparable to ETROP. We believe it has considerable advantages over both general
and topical anaesthesia, with the potential for lower morbidity.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Paper Presentations
50
T19: Functional and Structural Ophthalmological Outcome in Cryo- or Laser Treated Premature Babies with Retinopathy of Prematurity (ROP) Between 1989 and 2008. Catherine Cassiman1, Peter Stalmans1, Joachim Van Calster1, Karel Allegaert2, Ingele Casteels1
1Department of Ophthalmology, University Hospitals Leuven, 2Department of Neonatology, University Hospitals Leuven
Presented by Catherine Cassiman
Introduction: To assess the evolution in postmenstrual age (PMA) at birth, birth weight, PMA at
treatment, visual outcome, ophthalmoscopic appearance, refractive errors and strabismus in
infants treated for ROP between 1989 and 2008 at the University Hospitals of Leuven, Belgium. Methods: Retrospective analysis of the medical records of premature infants with ROP who were
treated with cryotherapy or lasertherapy. The study population is divided into three groups. In
group 1 (1989-1995) 26 cryo treated infants and in group 2 (1996-1999) 32 cryo treated infants are
included. Group 1 was treated at the threshold stage whereas group 2 was treated at the
prethreshold stage. Group 3 consists of 37 laser treated infants (2002-2008). Infants treated during
the transition time from cryotherapy to lasertherapy (1999 - 2001) were excluded. Results: Between the three groups differences in mean PMA at birth, mean birth weight and mean
PMA at treatment were evaluated. Visual and refractive outcome, ophthalmoscopic appearance
were compared. The presence of strabismus within the three groups, and involvement of the
central nervous system were evaluated. Conclusion: There is a tendency to better ophthalmological functional and structural outcome in
infants treated with cryotherapy at the prethreshold stage (group 2) compared to those who were
treated at the threshold stage (group 1). Ophthalmological functional and structural outcome is
better in infants treated with lasertherapy (group 3) compared to those treated with cryotherapy
(group 1 and 2). Subanalysis of the more recently laser treated group shows that poor visual
outcome can mainly be attributed to central nervous system involvement. High myopia is mainly
present in children who were diagnosed with ROP rush disease.
Conflict of Interest: None Author does not allow recording of the presentation.
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Paper Presentations
51
T20: Retinal Nerve Fibre Layer and Optic Nerve Head Parameters in Prematurely-Born Children. Hanna Akerblom, Eva Larsson, Gerd Holmstrom
Dep. of Neuroscience, Uppsala University, Sweden
Presented by Hanna Akerblom
Introduction: To investigate the retinal nerve fibre layer (RNFL) and optic nerve head with optical
coherent tomography (OCT) and Heidelberg retinal tomography (HRT) in prematurely-born
children and children born at term. Methods: Sixty-one children born before gestational age of 33 weeks together with a control group
of fifty-five children born at term and with normal birthweights, were included in the study. Twenty-
nine of the preterm children had ROP in the neonatal period and five were treated. RNFL was
measured with Stratus OCT 3 and HRT III. The optic nerve head parameters were assessed with
HRT and included; Disc Area (DA), Rim Area (RA), Cup Area (CA), Rim Volume (RV), Cup Volume
(CV). The mean age at examination was 8.5 years in the preterm children and 10.1 years in the
control group. Results: The mean visual acuity was 1.0 in right (RE) and left eyes (LE) in the preterm group
compared to 1.2 in the full-term group (p<0,001 ). In the preterm group the RNFL measured with
OCT was significantly thinner in the nasal area, but not in the temporal, inferior or superior areas.
The prematurely-born children had smaller DA but significant only in the right eye. The RA was
significantly smaller in both eyes in the preterm group compared to the fullterm. Conclusion: Prematurely-born children had lower visual acuity, but we could not prove that the
reason for this was a reduced RNFL. However, in HRT, there was a trend for smaller DA and a
significantly reduced RA. We have previously found thicker fovea in prematurely-born children.
Thus the reason for reduced visual acuity may be due to both retinal and neuronal causes and
remains to be elucidated.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Paper Presentations
52
T21: Which Psychophysical Colour Vision Test to Use for Screening in 3-9 Year Olds? Manca Tekavcic Pompe, Branka Stirn Kranjc
Univ. Medical Centre, Eye Hospital Ljubljana, Slovenia
Presented by Manca Tekavcic Pompe
Purpose: To compare 4 psychophysical colours vision tests in children and to decide which test is
most suitable for screening in pre-school and early school-age period. Methods: The first test used was modified Ishihara plates (Handaya Co. Ltd., Tokyo). The second
test »Colour vision testing made easy« (CVTME) (T.L. Waggoner, 1994) are also
pseudoisochromatic plates with children friendly symbols. The third test used was »Neitz test of
colour vision« (WPS, 2001) and the fourth test was »Mollon-Reffin Minimalist test« (MRM) (version
0.7, 1994). In the first three tests the child had to tell what is seen on the picture, whereas in the
fourth test the child had to pick the coloured button among distracters. 37 children (19 girls and 18
boys) from 3-9 years of age with normal colour vision (at least one test should be performed
without mistakes) were tested. The number of mistakes in each of the first 3 tests was registered,
whereas in the MRM test the last button distinguished among distracters was registered. Every
child was also asked which of the 4 tests he or she preferred. Results: 16/37 children made one or more mistakes in the modified Ishihara test, among them all
children under the age of 5 years. 9 made one mistake, 3 made two, 2 made three and 2 children
made 5 mistakes. Altogether 31 plates were not correctly recognized, 21/31 plates were
recognized as something else and 10 were not recognized at all. 8/37 children made one to three
mistakes in CVTME test. 4 children made one mistake, 3 made two and 1 child made three
mistakes. Altogether 13 plates were not correctly recognized. Since all of them are compositions of
many motives, not all motives were recognized. All tested children made at least one mistake in
the Neitz test. All gave wrong description for figure at position 6 of the test. Two 3-year old girls
weren’t able to perform the test. MRM test was performed in full by 14/37 children. Additional 8
children could not distinguish the faintest blue button among the distracters (which is still declared
as normal colour vision by the authors). 28/37 children choose the MRM test to be their favourite. Conclusions: Modified Ishihara colour test has turned out to be too difficult and therefore
unreliable in youngest children. For children under 5 years of age CVTME was more reliable in this
study. For all ages MRM test was the easiest to perform. Most children in this study subjectively
preferred the MRM test.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Paper Presentations
53
T22: Evaluation of the Neonatal Macula Using Spectral Domain Optical Coherence Tomography (SD OCT) Ramiro S. Maldonado, Neeru Sarin, Rachelle O'Connell, David K. Wallace, Sharon F. Freedman,
Cynthia A. Toth
Duke University Eye Center
Presented by Ramiro S. Maldonado
Introduction Optical coherence tomography (OCT) imaging of the retina plays an important role in
the diagnosis of adult retinal diseases. With the exception of a few case reports, this technology
has not been used for imaging the retina in the neonatal period. Limitations such as different
optical properties of the neonatal eye and poor cooperation have prevented this technique from
being used widely in infants. The purpose of this study was to evaluate the feasibility, safety and
efficacy of an age-customized method of performing spectral domain OCT (SD OCT) for the
evaluation of the macula in premature neonates. Methods Thirty-eight premature neonates, ages
31-42 weeks postmenstrual age (PMA) were enrolled in this IRB approved study. SDOCT was
performed at the bedside using a portable system. SD OCT imaging parameters were customized
for the infant age. . Feasibility was assessed by the time to complete each session and the number
of scans needed to achieve macular imaging. Safety was assessed by documenting fluctuations in
vital signs (oxygen saturation, heart rate and respiratory rate) and adverse events. Efficacy was
determined by a) B-scan image quality adequate to identify retinal contour and differentiate retinal
layers and b) ability to image the macula. Results A total of 305 individual imaging sessions were
performed. It took an average of 11 minutes to image both eyes (with an average of 4 scans per
eye), and the macula was imaged on average by the second scan. Vital signs did changed more
than 20% from baseline values during 301 (98%) of the 305 imaging sessions, and no adverse
events related to imaging were observed. The B-scan images met our quality requirements in 250
sessions (82%), and we were able to image the macula in 280 sessions (92%). SD OCT revealed
sub-clinical pathology such as macular edema, pre-retinal tissue and sub-retinal fluid, not noted by
indirect ophthalmoscopy. Conclusions SDOCT using an age-customized approach is a feasible,
safe and efficient, imaging tool to evaluate the posterior pole of premature neonates. This imaging
modality reveals sub-clinical pathology and might aid in understanding the pathogenesis of
neonatal retinal diseases. 1. Maldonado et al. IOVS 2010, p2678
Conflict of Interest: None, Dr. Cynthia Toth receives Research Financial support from Bioptigen. No financial interest.
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Paper Presentations
54
T23: OCT and Clinical Features of Chorioretinal Colobomas in Children Jaume Català-Mora1, Annabella Zurita2, Jesús Díaz-Cascajosa1, Mariona Vidal-Santacana1, Rosa
Navarro-Nomen3, Joan Prat-Bartomeu1
1Hospital Sant Joan de Déu-Barcelona. Spain., 2Instituto Clínico La Florida-Caracas. Venezuela., 3Hospital Universitari de Bellvitge. Barcelona. Spain
Presented by Jaume Català-Mora
Introduction: Chorioretinal coloboma is a congenital defect caused by an incomplete closure of
the embryonal fissure. The severity of the visual disability depends on the size and the involvement
of optic disc and macula, and associated anomalies of the eye such as microphthalmos and
nystagmus. Eyes with chorioretinal coloboma are at risk of detachment of the remaining retina. Methods: We have reviewed charts from all patients with choriorretinal coloboma in our hospital
between 2004 and 2009 collecting their best-corrected visual acuity, slit lamp examination,
ophthalmoscopic examination, complications and any ophthalmological event. Then we selected
patients suitable for Fourier Domain OCT imaging of the coloboma margin. Results: 42 patients with coloboma, aged 1 mo-21 yo. 23 were boys and 17 were girls. 17 had
unilateral coloboma (8 RE/9 LE) and 23 had bilateral coloboma. The iris was involved in 6 patients,
papilla was affected in 10 cases and macula in 4 eyes. A combination of iris, papilla and/or macula
was seen in the other 43 cases. We could find other ophthalmic malformations in 21 patients
whereas systemic association was seen in 12 patients. 3 eyes developed retinal detachment that
needed surgical repair while 2 other eyes developed retinal detachment resolved spontaneously.
OCT was feasible in 15 patients. As described by Gopal et al. colobomas are covered or the
intercalary membrane (ICM). Subclinical retinal detachments, retinoschisis and subretinal and sub-
ICM spaces communication could be observed. Conclusions: Chorioretinal colobomas are known as associated to other ophthalmic and systemic
malformations. Retinal detachment is a relatively frequent complication that can spontaneously
resolve in some cases although most of the patients require pars plana vitrectomy and silicone oil
tamponade. OCT findings in these patients helps our understanding of the anatomical relationship
between coloboma, normal retina and posterior hyaloid.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Paper Presentations
55
T24: Foveal Ultrastructure and Fundus Autofluorescence in Achromatopsia. Christoph Friedburg1, Julia Hoeges1, Susanne Kohl2, Birgit Lorenz1
1Department of Ophthalmology, Justus Liebig University, Giessen, Germany, 2Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Clinics Tübingen, Germany
Presented by Christoph Friedburg
Purpose: To evaluate foveal morphology in achromatopsia. Methods: Fifteen patients, one aged 79, the remaining aged 6 to 34 (median 16 years) with a
clinical diagnosis of achromatopsia were reassessed using optical coherence tomography (SD-
OCT, volume scan if possible) and fundus autofluorescence (FAF; Spectralis, Heidelberg
Engineering, Germany,). Ethic committee approval and written informed consent were obtained.
Inclusion criteria were history of stable disease and plausible autosomal-recessive inheritance,
congenital nystagmus, severely reduced visual acuity, no ophthalmoscopically visible signs of
retinal degeneration, absent cone and normal rod electroretinogram. Four patients carried
mutations in CNGB3, one in GNAT2, and one in CNGA3. In Patient #1, these 3 genes and blue
cone monochromatism were excluded as causative. In 9 patients including the latter, mutations still
have to be identified. Results: OCT scanning was impeded by nystagmus. In some cooperative patients we used a
contact ring similar to a gonioscopy lens, to reduce the amplitude of the nystagmus. Despite this,
no OCT of the fovea could be obtained in 3 patients. Most patients demonstrated zones of reduced
OCT-signal in the outer and inner segment photoreceptor layer. In some, this area appeared
irregular. Surprisingly, two patients had dense reflexes in that layer, thickened in one of them
(Patient #1). The FAF pattern of the macula appeared changed with a smaller than normal central
zone of relatively lower signal. Some patients had irregularities or rarely a thin ring of clearly
enhanced FAF. Three patients without a molecular diagnosis showed new features that casted
doubts on the diagnosis of achromatospia. Conclusion: Although achromatopsia is referred to as a malfunction (implying normal structure),
most patients show subtle defects within the photoreceptor layer consistent with the cross-
sectional study of achromats by Thiadens et al. (2010, IOVS in press). FAF provides additional
information. Whether structural changes of the fovea can have an impact on the surrounding
retina, leading to changes in FAF will require further studies.
Conflict of Interest: None Author does not allow recording of the presentation.
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Paper Presentations
56
T25: Ocular Manifestations of Incontinentia Pigmenti Pascal Dureau1, Florence Metge1, Christine Bodemer2, Georges Caputo1
1Fondation Rothschild, Paris, France, 2Service de Dermatologie, Hôpital Necker, Paris, France
Presented by Pascal Dureau
Introduction: Incontinentia Pigmenti (IP) is a neuro-oculo-cutaneous disease characterized by a
congenital erythematous vesicular rash followed by hyperpigmentation and atrophy. Transmission
is X-linked dominant. Neurologic complications result from vascular occlusions. The main ocular
manifestation is retinal ischemia leading to neovacularization and detachment, resembling ROP.
The aim of this study was to review ocular manifestations in a group of IP patients and discuss a
follow-up program. Methods: All IP patients referred for ocular screening or complications from 2003 to 2010 were
retrospectively studied. The following points were noted: age at time of first examination, refraction,
anterior and posterior segment status, neurological complications, surgical treatment, follow-up,
final anatomical and functional outcome. Results: A total of 13 patients were referred, 6 for screening and 7 for complications. Median age
at the time of first examination was 2.5 months for screening and 4.2 months for complications.
Mean refraction was slightly hyperopic. No patient referred for screening experienced
complications during a median 8.7 months follow-up time. One adult patient had an optic
neuropathy possibly related to IP. Six infants had tractional retinal detachment and surgery did not
permit reattachment in any of these cases. Three of them had neurological complications. Conclusion: The main ocular manifestation of IP is retinal detachment secondary to peripheral
retinal ischemia and neovascularization. The anatomical and functional prognosis is poor despite
early surgery. Anterior segment complications are often the consequence of posterior segment
status. Neurological ischemic complications are often associated. For unknown reasons, these
severe retinal complications are generally unilateral and occur in the first months of life. A careful
screening program is strongly advised in the first year of life.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Paper Presentations
57
T26: RD3 mutation in a consanguineous LCA family Markus Preising1, Nora Hausotter-Will1, Manuel Solbach1, Christoph Friedburg1, Franz
Rüschendorf2, Birgit Lorenz1
1Department of Ophthalmology, Justus Liebig University, Giessen, Germany, 2Max Delbrück Center for Molecular Medicine Berlin-Buch, Germany
Presented by Markus Preising
Purpose: To identify the underlying gene defect in a consanguineous Kurdish LCA family with
several affecteds. Methods: Linkage analysis was performed in a consanguineous 4 generation Kurdish family with 5
affected children consistent with autosomal recessive inheritance. The patients were clinically
examined by BCVA, Goldman visual field, Ganzfeld ERG, VEP, and funduscopy. GUCY2D,
RPE65, LRAT, AIPL1, CRX, CRB1 and CEP290 were submitted to mutation analysis by SSCP.
Linkage analysis was performed by a SNP-microarray (Affymetrix Mapping 50k Xba 240 Array)
assay. To limit the candidate region additional microsatellite markers were selected from the NCBI-
dbSNP-Database according to the SNPs linked in the microarray assay. The microsatellite markers
were amplified by standard PCR conditions. PCR products were analyzed on a QIAxcel capillary
gel electrophoresis (Qiagen, Hilden). Alleles were determined from the electropherogramm and
haplotypes were built in Cyrillic 2.1. RD3 was amplified by PCR in two amplicons and sequenced
directly. 50 further patients are screened in an ongoing study in sets of increasing age at a visual
acuity (VA) > 0.1 to describe further mutations in RD3. Results: The patients presented with nystagmus, increased glare sensitivity, reduced BCVA since
birth and progressive visual field constriction. VEP or ERG were below threshold in early
childhood. Funduscopy at age 2 revealed constricted retinal vessels, pigment irregularities were
seen in the periphery and the macula. Classical LCA genes were excluded. The SNP microarray
assay was used to map the underlying gene defect to chromosome 1q31.3 – 1q32.3 covering
known genes for retinal degenerations including CRB1, USH2a, and RD3. Linkage analysis
reduced the candidate region to 3 Mb covering 138 genes including 10 genes involved in eye or
brain function. RD3 was chosen for candidate analysis since it had been reported once in a single
Indian LCA family. Direct sequencing of RD3 revealed a homozygous stop mutation (p.Y60X
(c.180C>A)) in exon 2. Screening of the first sets of patients with VA >0.1 before age 2 revealed no
mutations. Discussion: We identified the second family showing a mutation in RD3. It is the first nonsense
mutation detected in RD3. Low detection rates in patients of VA > 0.1 before age 2 still making
RD3 a rare cause in LCA. Support: DFG Lo457/5, ReForM, Pro Retina Deutschland
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Paper Presentations
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T27: New Insight in Retinal Phenotype of Patient with AIPL1 Mutations Francesco Testa1, Settimio Rossi1, Valentina Di Iorio1, Sandro Banfi2, Alberto Auricchio2,
Francesca Simonelli1
1Department of Ophthalmology, Second University of Naples, Italy, 2Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy
Presented by Francesco Testa
Introduction: To describe the retinal dystrophy phenotype associated with mutations in AIPL1, the
gene encoding a aryl hydrocarbon receptor-interacting protein like-1 expressed in the
photoreceptor cells and the pineal gland. Methods: Ten patients with Leber congenital amaurosis (LCA) from 8 families with pathogenic
AIPL1 mutations on both alleles were studied. Retinal phenotypes were characterized by
ophthalmic examination, including electroretinography, spectral domain optical coherence
tomography (SD-OCT) and fundus autofluorescence. Results: The molecular analysis revealed that 50% of AIPL1 patients is homozygous for the most
frequent p.Trp278X mutation, resulting in a null genotype, and 80 % had at least one allele with the
p.Trp278X mutation. These individuals appeared to share a common clinical picture, independent
of the type of mutation, characterized by poor, visual function in early life, due to both rod and cone
degeneration. Keratoconus and cataracts were identified in 30% of patient. Marked pigmentary
retinopathy, including bone spicules in the peripheral retina, was present in 80% of patients
associated with maculopathy. Electroretinograms were extinguished in all patients. A unique view
into the degree retinal degeneration was achieved by detection of fundus autofluorescence and
partially retained retina lamellar structures with a preservation of the outer nuclear layer at OCT
examination. Conclusion: Ophthalmic findings in patients with LCA due to AIPL1 mutations suggest that AIPL1
loss-of-function results in a severe form of pigmentary retinopathy associated with maculopathy
and in one third of cases keratoconus and cataract. From our autofluorescence and OCT data, it
seems likely that, despite the severity of the retinal phenotype, the time course of progressive
photoreceptor cell death may be slow in LCA AIPL1 patients. This findings may have implications
for future therapies designed to restore vision at the photoreceptor level.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
60
P01: Preschool Visual Screening in the Municipality of Thessaloniki Areti Vartholomeou1, T. Naoumidi2, M. Antoniadis2, A. Mandalos2, O. Leliopoulou2, N. Ziakas2
1Papageorgiou Hospital, Thessaloniki, Greece, 2Ahepa Hospital, Thessaloniki, Greece
Presented by Nicolaos Ziakas
Introduction: The Municipality of Thessaloniki organized a systematic routine health check-up in
preschool children during which all children underwent physical, mental, and developmental
checkups including dental, eye, and hearing examinations. The aim of this study is to assess the
outcome and the importance of the preschool vision screening program. Methods: Α team of 7 ophthalmologists participated in a preschool visual screening program
during the year 2009, in which 1025 children, aged up to 5 years old, from 19 day nursery schools
of the Municipality of Thessaloniki, were included.The examination procedure consisted of 2 steps:
1.Visual acuity testing (only for ≥2 year-old children) using the Kays LogMar acuity test and 2.
Orthoptic evaluation. Depending on the main outcome measures, those children that required
further evaluation were referred to the Pediatric Ophthalmology Department of the Aristotle
University of Thessaloniki in Ahepa Hospital, where a thorough ophthalmic examination was
conducted to detect ocular anomalies, refractive errors, strabismus, and amblyopia. Results: Of the total 1025 children that were included in the study, 779 (76%) were examined, 223
(22%) were absent at the time of visit and 23 (2%) did not cooperate. Distribution of ages is
described as follows: 234 were aged 4-5 years old (30%), 336 were 3-4 years old (43%), 184 were
2-3 years old (24%) and 25 were <2 years old (3%). The 749 (97%) were normal, 11 (1%) already
wore glasses and 19 (2%) required further evaluation. Of those referred: 12 children (63%) did not
attend, 5 (26%) were diagnosed with astigmatism and 2 (11%) with mild hyperopia and esophoria.
No cases of strabismus or amblyopia were detected. Conclusion: Τhe incidence of non diagnosed ophthalmic pathology in the preschool vision
screening program of Thessaloniki, during the year 2009, was low. Νevertheless, the conduction of
such programs is essential to detect refractive errors, prevent the risk of amblyopia and treat
strabismus
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
61
P02: Place of Web-Based Visual Screening in Pediatric Eye Care Patricia Domsa1, Zsuzsanna Alberti2, István Kiss4, Vilmos Kiss4, Samu Krisztián5, Katalin Sényi3
1Dept. Pediatric Ophthalmology HPCH Madarász Street Children’s Hospital, 2Faculty of Medicine, Semmelweis University, 3Dept. of Ophthalmology, Semmelweis University, Budapest, 4Tavkapcsolat Kft, 5Dept. Mechatronics, Optics and Information Engineering, University of Technology and Economics, Budapest
Presented by Patricia Domsa
Introduction: Disparity of financial resources and lack of well-trained screening staff is an
everyday challenge in pediatric eye care in Hungary. As web-based learning and self-testing is
becoming more and more accepted, we decided to develop an easy to use web-based visual
function screening test in Hungarian. Our goal was to develop a system for inexperienced users –
for instance kindergarten teachers and health visitors -, and which is compatible with legacy
hardware. The aim of this study was to evaluate the effectiveness of our new web-based test
battery. Methods: Forty-one children (age range 3-17 years) performed the computer based screening in
our outpatient clinic, and were examined with widely used tests for comparison. Visual acuity was
tested and compared using Snellen type symbol charts. Computer based color vision test was
compared with the Ishihara Color Vison Test. Sensitivity, specificity, positive predictive value,
negative predictive value and kappa test were evaluated. Results: The sensitivity and the negative predictive value of all the visual acuity tests and the color
vision test reached 100%, whereas the specificity and the positive predictive value of visual acuity
tests were lower (Landolt: 66% and 60%; Valentine 62.5% and 70%; Valentine Multi: 71.4% and
75% respectively). The specificity of the web-based color vision test was 100%. Conclusion: Our web-based tests are simple to use, offer high sensitivity and reasonable
specificity in hands of non-trained personnel as well. Standard testing cannot be substituted by the
method, but it helps to screen children at kindergarten, school or even at home, drawing attention
to vision disorders.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
62
P03: In Vitro Expression of the Anti-VEGF-F(Ab)-Fragment Ranibizumab Tobias Wimmer, Nina Wagner, Markus Preising, Birgit Lorenz, Knut Stieger
Department of Ophthalmology, Justus Liebig University, Giessen, Germany
Presented by Tobias Wimmer
Introduction: Overexpression of VEGF (vascular endothelial growth factor) is the major growth
factor involved in neovascular disorders such as AMD (age-related macula degeneration), but also
the retinopathy of prematurity (ROP). In patients suffering from AMD, the treatment of choice
comprises of repeated intravitreal injections with the VEGF-Inhibiting antibodies Bevacizumab and
Ranibizumab. Recently, single injections of Bevacicumab in premature infants with advanced
stages of ROP also showed significant success in limiting uncontrolled growth of blood vessels in
the retina. The aim of this project is to clone and express the VEGF-inhibiting F(ab)-Fragment
Ranibizumab (Lucentis®) in vitro, and the determination of its VEGF inhibiting activity in a
proliferation-assay. Methods: Ranibizumab is made of two antibody chains, the light and a part of the heavy chain of
the VEGF-binding IgG Bevacicumab. Both chains were cloned into the expression-vector
pIREShrGFP1a (Stratagene,Aglient Technologies Inc., Santa Clara CA). HEK293 (ATCC: CRL-
1573) cell-cultures were transfected with this construct using Lipofectamin LTX (Invitrogen,
Darmstadt). Expression of the chains was verified by western blot under reducing and non
reducing conditions. The biological activity of the secreted protein was analyzed with a BrdU-
Proliferation-Assay. Results: We successfully cloned both genes into one expression-vector separated by an IRES
(internal ribosomal entry site) to obtain the expression of this two genes simultaneously. The
expression of both genes was shown by Western blot analysis under reducing and non reducing
conditions. Both chains form a heterodimer, are secreted into the medium and showed significant
biological activity in an in vitro assay. Conclusion: The results of this study indicate that the F(ab) fragment Ranibizumab can be
expressed from eukaryotic cells in vitro in a biologically active manner. Subsequent generation of
viral vectors using this expression cassette may enable the transgene to be expressed in retinal
cells in vivo after gene transfer into the retina as an alternative treatment option for AMD or ROP.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
63
P04: Keratitis in Reiter's Syndrome in Childhood Nikolaos Kozeis1, Maria Trachana2, Eleni Pratsidou2, Nikolaos Ziakas3, Straton Tyradellis1
1Paediatric Eye department, Hippokration Hospital of Thessaloniki, Greece, 2Paediatric Immunology and Rheumatology Referral Center, First Department of Pediatrics, Hippokration Hospital of Thessaloniki, Greece, 31st University Eye department of AUT, Thessaloniki, Greece
Presented by Nikolaos Kozeis
Introduction: To present a rare ocular manifestation of Reiter’s syndrome in a child Methods: A 10 year old girl who was admitted to our hospital with low grade fever, arthritis and
aching left eye with blurred vision was diagnosed with Reiter’s syndrome. At the time of admittance
the ophthalmologic examination revealed keratitis, this mildly affected the vision Results: Keratitis was resolved with treatment with topical steroids and antibiotic drops after one
month, without scarring. Although 75% of the patients with Reiter’s syndrome present ophthalmic
manifestations, keratitis is a very rare finding in Reiter's syndrome and even rarer in children Conclusion: It should be kept in mind that keratitis could be an ocular manifestation of Reiter’s in
young age
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
64
P05: Oculoglandular Syndrom Parinaud Aneta Skupin, Melanie Jaeger, Birgit Lorenz
Department of Ophthalmology, Justus Liebig University, Giessen, Germany
Presented by Aneta Skupin
Background: Parinaud Syndrome is a rare eye manifestation from a cat-scratch fever with
conjunctivitis accompanied by nearby regional lymphadenopathy.
Case report: A 4-year-old boy with unilateral granulomatous conjunctivitis of the right eye (fig.1),
ipsilateral preauricular lymphadenopathy (fig. 2) and fever for 2 weeks was referred to our
ophthalmology unit. Slit lamp examination showed conjunctival injection and chemosis (fig.3).
There were no pathological findings in the fundus of both eyes (fig. 4). The blood tests showed an
increase of IgG antibody levels to Bartonella henselae bacterium. There was a history of exposure
to little cats. A local therapy was initiated with Ofloxacin, Erythromycin and Dexpanthenol.
Systemically Rifampicin and Azithromycin were given thereafter the disease remained stable. After
2 weeks almost all symptoms had resolved (fig. 5). Conclusion: Parinaud syndrome is the most common manifestation of atypical cat scratch
disease. When the diagnosis is made early and treatment started immediately, the outcome of
Parinaud syndrome can be very good.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
65
P06: Bilateral Traumatic Optic Neuropathy in Child - Case Report Nikolaos Ziakas1, Areti Vartholomeou2, Nikolaos Kozeis3
1Ahepa Hospital, Thessaloniki, Greece, 2Papageorgiou Hospital, Thessaloniki, Greece, 3Hippokratio Hospital, Thessaloniki, Greece
Presented by Nicolaos Ziakas
Introduction: Traumatic optic neuropathy usually occurs laterally in association with blunt skull
trauma involving fractures of the skull and optic canal and signs of local or systemic contusion.
Rarely it occurs after blunt ocular trauma. We report an atypical case involving bilateral traumatic
optic neuropathy in a child after minor blunt ocular injury. Methods: A seven year old boy presented to our department after having been injured by an
elastic rope in both eyes. The patient underwent a thorough ophthalmological examination and
therapy was set according to findings. Follow up examination data that were recorded after two
days, 2 weeks, 4 weeks and 3 months later are being presented. Therapy was also adjusted
accordingly and the patient is still being followed. Results: Initial examination revealed bilateral corneal epithelial defect, elevated IOP and hyphema
which obscured fundoscopy. Therapy was set with Timolol-Dorzolamide as well as Tobramycin-
Dexamethasone eye drops. After two days bilateral iridoplegia was also observed but the ocular
ultrasonography was normal. After two weeks, examination was normal except for a remaining
hyphema in the left eye and bilateral iridoplegia. Four weeks later bilateral optic nerve atrophy was
noted. Neuroimaging revealed optic sheath swelling due to celebrospinal fluid consentration. Three
months later the patient had visual acuity of 1/20 in the right and light perception in the left eye. Conclusion: Direct or indirect trauma may damage the optic nerve and result in permanent visual
loss. The diagnosis of traumatic optic neuropathy is not always straightforward and is complicated
by unfavourable circumstances for the examination. Questions are still being raised about the
efficiency of current therapy for improving visual outcomes. To our knowledge such case of
bilateral traumatic optic neuropathy in a child following blunt ocular injury has not been reported
before.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
66
P07: And where is Pathology at Oculomotor Pareses? New Approach to Old Challenge Igor Aznauryan, Victoria Balasanyan
Association of pediatric ophthalmology clinics "Yasniy Vzor"
Presented by Victoria Balasanyan
It is universally accepted that the oculomotor system paresis and palsy are due to the nucleus local
pathology of either oculomotor, abducent or trochlear nerves, or their combination. However, the
clinical presentation of these states often varies greatly within wide limits: the degree of paresis
manifestation, the number of muscles involved into paresis, the degree of movement disorders in
some muscles, occurrence of various combined nystagmoid movements, etc. From the aforesaid,
it seems doubtful that the reason for the oculomotor involvement, oculomotor pareses, is the
isolated nucleus lesion of the cerebral nerve innervating this or that muscle. We have studied from
literature and in clinics the internuclear and supranuclear disorders, as well as the breaking of
bonds in the vestibule-ocular system and those associated with the posterior longitudinal fascicle.
Based on the results of our investigation we have concluded that in major cases the paralytic
strabismus is not brought on by the direct injury of the respective cerebral nerve nucleus, but is
initiated, first of all, by the breaking of the higher-order supranuclear and internuclear bonds, which
determine control over the cerebral nerve final nuclei. From the findings of our investigation, we
have developed the surgical procedure for treating the paralytic strabismus in children, which
makes possible eye movement in all directions of the horizontal gaze.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
67
P08: Visual Skills and Gross Motor Function in Spastic Diplegic Children Nikolaos Kozeis1, Dimitrios Zafeiriou2, Nikolaos Ziakas3, Straton Tyradelis1
1Pediatric Eye department Hippokration Hospital of Thessaloniki, Greece, 21st University Paediatric department AUT, Thessaloniki, Greece, 31st University Eye department AUT, Thessaloniki, Greece
Presented by Nikolaos Kozeis
Purpose: In this study it was investigated the relationship between abnormal visual parameters
and other parameters in children with spastic diplegia (SD) due to cerebral palsy (CP). Patients
and Methods: Twenty eight SD children (age range 24-54 months; mean age 38.86 months; std.
22.83) were enrolled in this study. Data, regarding pre-, peri- and postnatal events, history of
epilepsy, were recorded retrospectively. Evaluation of the best corrected binocular visual acuity /
resolution (BVA) (by using Lea’s grating test), refraction (after cycloplegic refraction), functional
visual fields, gross motor function (GMFCS), electroencephalogram (EEG) and brain MRI were
performed in all patients. Results: Seventeen children (60.70%) were classified as level GMFCS 1-2 (mild) and eleven
(39.30%) as level GMFCS 3-5 (severe). One eye (3.60%) of them had BVA < 0.21 cpd (equivalent
x<6/120), seven eyes (25.00%) had 0.21<BVA<1.75 cpd (equivalent 6/120<x<6/18) and twenty
eyes (71.40%) had BVA > 1.75 cpd (equivalent x>6/18, normal for the age group). Nine children
(32.10%) appeared with hyperopia, three children (10.70%) with myopia and sixteen children
(57.10%) with insignificant refractive error. For statistical analysis, only the results of the eye with
better vision were considered. Three children (3.70%) manifested abnormal binocular functional
visual fields. Three children (10.70%) were epileptic, while twenty- five (89.30%) demonstrated
radiological evidence of periventricular white matter pathology and three (10.70%) demonstrated
hypoxic-ischaemic lesions by brain MRI. Statistical analysis using the Kruskal-Wallis and Mann-
Whitney U test (significant level 0.05), proved that abnormal visual acuity and functional visual
fields were associated with: abnormal electroencephalogram (p=0.023 & p=0.002 respectively), the
level of GMFCS (p=0,000 & p=0.035 respectively) and the type of brain damage (p=0.007 only for
the visual fields). Conclusion: A significant incidence of CP SD appeared with affected visual skills. The more
severely affected gross motor function, the abnormal EEG and the more severe brain damage, the
more common to be associated with affected visual acuity and visual fields.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
68
P09: Impaired Foveal and Peripheral Face Processing in Amblyopia Judit Körtvélyes1, Éva Mária Bankó2, János Németh1, Zoltán Vidnyánszky2
1Dept. of Ophthalmology, Semmelweis Univ, Budapest, 2Neuro and Infobionics Research Group, Hung. Acad. Sci. – Pázmány Péter Catholic Univ – Semmelweis Univ, Budapest
Presented by Judit Körtvélyes
Introduction: Beyond developing new screening methods it is a major challenge to understand the
neural substrate of this common disease. Based on the results of previous functional magnetic
resonance imaging research it has been suggested that higher level object-specific visual
processing – in particular processing of faces - is strongly impaired in the foveal, but not in the
peripheral vision in amblyopia. However, direct comparison of foveal and peripheral object-related
processing deficits in amblyopia requires that the cortical representation of the foveal and
peripheral stimuli were matched according to the human visual cortical magnification factor, which
was not the case in previous studies. Methods: Fourteen amblyopic patients performed tilt discrimination in a two alternative forced
choise task. Presentation sizes were foveal (2deg) and peripheral (4.7deg) with the cortical
representation of the stimuli equated. We recorded neuronal activity using a high-density EEG
electrode array. Results: We found that the face-related N170 ERP component was significantly reduced and
delayed in the amblyopic eye as compared to the fellow eye both in the case of foveal (p<0,001
and p<0,0001 for amplitude and latency, respectively) and peripheral (p<0,01; p<0,001) face
stimuli, although the difference between the two eyes was more pronounced in foveal vision.
Furthermore, we also showed that in peripheral vision the amblyopic effects found on the N170
component might primarily reflect the decreased power and inter-trial synchrony relative to
prestimulus baseline in the alpha band, which suggest abnormal evoked alpha band oscillations in
the case of the amblyopic eye. Additional analysis of the data as well as our control experiment
showed that the amblyopic effects found on the N170 component cannot be explained based on
the deficits of low-level feature processing, known to exist in amblyopia. Conclusion: These findings provide the first neurophysiological evidence that impaired face
processing in amblyopic vision is not limited to the fovea but also affects peripheral vision to a
lesser extent.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
69
P10: Visual Fields Defects by Sturge Weber Syndrome Giorgio Porro
Utrecht University Hospital
Presented by Giorgio Porro
Aim of the study: Recording the visual field (VF) in children with Sturge Weber Syndrome (SWS)
in relation to ophthalmological-, neurological- and neuro-imaging data. Material and Methods: Above mentioned data, including behavioural VF were retrospectively analyzed. Results: Seven children (4 males, 3 females) were examined. Mean age was 22 mo (range: from
7 mo to 5y 3 mo). Mean follow-up was 3 y 30 mo. Glaucoma was found in 2 children. Two children
were treated with Vigabatrine and one underwent epilepsy surgery. Four children had a
homonymous hemianopia contralateral to the leptomeningeal vascular malformation and one child
had a concentric restriction probably caused by Vigabatrine therapy. Conclusion: In SWS it is of paramount importance to monitor VF, since VF defects are not only
caused by glaucoma in the ipsilateral eye or by side effects of Vigabatrine, but also by
leptomeningeal vascular malformation, which affect the VF also in the contralateral “sound”eye
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
70
P11: Visual Function vs. Psychomotor Development of Premature Infants with No Severe Adverse Effects Nikolaos Κozeis1, Nikolaos Ziakas2, Straton Tyradelis1, Maria Mavromihali3, Vasiliki Soubasi3,
Vasiliki Drossou3
13rd University Eye department AUT, Thessaloniki, Greece, 21st University Eye department AUT, Thessaloniki, Greece, 31st University Neonatal department AUT, Thessaloniki, Greece
Presented by Nikolaos Kozeis
Introduction: To follow the visual development along with the psychomotor development of
premature infants with no severe adverse effects Methods: 50 premature infants (age range= 26-34 w; mean gestational age= 30.98 w; SD=1.56;
range of birth weight= 860-2410 gr; mean birth weight= 1460 gr; SD=299.8) were enrolled in this
prospective study. According to the protocol, at 10th and 18th adjusted months, the best corrected
binocular visual acuity (BCVA) (by Lea’s grating test), refractive status (cycloplegic refraction),
contrast sensitivity (by Hiding Heidy test), strabismus (by Krimsky test), fundoscopy, brain b-scan
and DENVER test, were evaluated. Infants with IVH, PVL, ROP and eye dysplasias were
excluded. A group of 50 full term controls was also included. Fisher extract test and Mann-Whitney
for statistical analysis were used (p<0.05) Results: 46 infants (92%) and 47 infants (94%) appeared with normal BCVA at the 10th and 18th
adjusted month of age respectively; 48 infants (96%) and 41 children (82%) appeared with
insignificant refractive error at the 10th and 18th adjusted month respectively; 46 infants (92%)
appeared with orthophoria at the 10th as well as the 18th adjusted month. All infants were able to
recognize 25% contrast sensitivity Heidi faces at the 10th adjusted month, while 11 infants were
able to recognize 10% contrast sensitivity Heidi faces at the 18th adjusted month. 39 infants (78%)
appeared with normal DENVER score, while 11 infants (22%) appeared with abnormal DENVER
score. 27 infants (54%) appeared with normal brain echo, while 23 infants (46%) appeared with
enlarged ventricles. Significant statistically relation between prematurity and psychomotor
development (p=0.017), but no between prematurity and visual function (p>0.05) was found; the
visual acuity develops faster in full terms than in preterms during the first 10 months of life; much
more pre terms appeared with significant refractive errors than the full terms during the second
year of life; all preterms wirh pathological echo brain, at the age of 10 months, were myopic
(p=0.036) Conclusion: Vision development is the same in pre- and full terms especially after the first year of
life. Visual function affects but it is not significantly related to psychomotor development in
preterms
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
71
P12: Overlapping of Alström and Bardet-Biedl Syndrome Early Phenotype Confirmed by Systematic High Throughput Ciliopathy Genes Sequencing Konstantinos Aliferis1, Sophie Hellé2, Corinne Stoetzel2, Jean-Louis Mandel3, Hélène Dollfus1
1Centre de Référence pour les Affections Rares en Génétique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France, 2Laboratoire de Physiopathologie des Syndromes Rares Héréditaires, équipe avenir INSERM, Faculté de Médecine, Université de Strasbourg, France, 3Laboratoire de diagnostic génétique, CHRU Strasbourg, Faculté de Médecine, Strasbourg, France
Presented by Konstantinos Aliferis
Introduction: Infantile retinal degeneration associated with obesity can present a diagnostic
challenge in paediatric ophthalmology practice Clinical overlap between Bardet-Biedl and Alström
syndromes has already been pointed out, although they are genetically distinct syndromes. Up to
date more then 14 genes are known to be associated with Bardet-Biedl syndrome (BBS1-14) and
only one gene has been reported with Alström syndrome (ALMS1). Methods: In collaboration with the French national center of sequencing (CNS, Evry), high
throughput sequencing was conducted for 25 ciliopathy genes (BBS1-
12,MGC1203,TTC21b,AHI1,NPHP2-8(NPHP6=BBS14),MKS1(BBS13),MKS3,ALMS1) in samples
of 96 patients with no mutation for the 14 known BBS genes. ALMS1 gene molecular analysis
included all coding exons sequencing. ALMS1 mutations were found in 4 cases. Discussion: Among the four detected mutations, one (c.1131delAGAG) has already been
reported whereas three were novel (c.6823insA, c.2293C>T, c. 8410delA). All four mutations were
predicted to cause the production of a truncated protein and were found in homozygous state in
the patients, with positive family segregation. From a clinical point of view, all four patients
presented severe retinal degenerative disease with early onset and congenital nystagmus
associated with obesity. Conclusion: Our study evaluates the rate of ALMS1 mutations among suspected Bardet-Biedl
patients with negative molecular test. The difficult early differential diagnosis between the two
syndromes is pointed out and three new ALMS1 mutations are reported. High throughput ciliopathy
genes sequencing can be extremely important in order to provide diagnosis in time and in this way
appropriate genetic counselling for the families and adequate medical follow-up for affected
children.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
72
P13: Development of a Humanized Mouse-Model for X-Linked Retinitis Pigmentosa Caused by a Point Mutation in the RPGR Gene Jutta Hosch1, Stefan Günther2, Thomas Braun2, Markus Preising1, Birgit Lorenz1, Knut Stieger1
1Department of Ophthalmology, Justus Liebig University, Giessen, Germany, 2Max Planck Institute
for Heart and Lung Research, Bad Nauheim
Presented by Jutta Hosch
Introduction: Mutations in the gene encoding the retinitis pigmentosa GTPase regulator (RPGR)
are the most frequent causes for X-linked RP in humans, causing 70-80% of all XLRP cases and
between 15 and 20% of all RP cases. Most of the responsible mutations can be found in a specific
repetitive region of the ORF15, which is therefore called the “mutation hot spot” of RPGR. Point
mutations in ORF15 cause a frame shift, leading to a modified C-terminal amino acid chain and
thus causing a toxic gain of function of the mutated protein. The purpose of this study is to develop
a mouse model that contains a 1 base pair deletion in the mutational “hot spot” region of ORF15
which provokes a change of the amino acids at the C-terminal end similar to the mutated human
proteins. Methods: To introduce the pathologic mutation into murine ES cells via homologous
recombination, a targeting vector was used, containing mouse-DNA recombined from a BAC
(bacterial artificial chromosome), the mutations as well as a Diphtheria-toxin-A cassette (DTA) as a
negative selection side and a floxed Neomycin-cassette for positive selection. After the assembly
of the final targeting vector, it was electroporated into the ES cells, where homologous
recombination took place. PCR, restriction digests and sequencing were performed for analysis. Results: The positive clones were transplanted into mouse blastocytes and then implanted into
surrogate mother mice. The resulting chimeric mice as well as their offspring were screened. The
chimeric animals were cross-breed with Cre-deleter mice to delete the Neomycin-cassette from the
genome to prevent any negative effects. Resulting offspring is currently back-crossed into BL6
background. Discussion: The newly generated mouse model will help to gain further insight into the
pathological mechanisms involved in retinal degeneration, the expression pattern of mutated
RPGR-ORF15 forms, the influence of point mutations in the ORF15 repetitive region on expression
and splicing of the mRNA, and the biochemical reason for the toxicity of such proteins. In addition
to the development of a classic viral mediated gene addition therapy, this humanized mouse model
will potentially make a substantial contribution to the development of a new therapeutic strategy
called targeted gene alteration, which is still in experimental stage but holds great promise to
further retinal gene therapy trials.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
73
P14: Immunhistochemical Characterization of AAV Transduced Retinae Following Subretinal Injection in Rats Bert Constantin Giers1, Alexandra Mendes-Madeira2, Birgit Lorenz1, Fabienne Rolling2, Silke
Haverkamp3, Knut Stieger1
1Department of Ophthalmology, Justus Liebig University, Giessen, Germany, 2INSERM U649, Laboratory of Gene Therapy, University of Nantes, France, 3Department of Neuroanatomy, MPI for Brain Research, Frankfurt a. M., Germany
Presented by Bert Constantin Giers
Introduction: Ocular gene therapy studies have been developed for a variety of different diseases.
In particular, gene therapy trials for RPE65 Mutations have recently started and more than a dozen
patients have been enrolled so far. In contrast to murine and canine studies, where vision and
objective electrophysiological measurements such as ERG improved dramatically, therapeutic
benefit in human patients remained somewhat limited to improved light sensitivity and better
ambulance of an obstacle parcours in single cases. Synaptic circuits in the outer (OPL) and inner
plexiform layer (IPL) are dynamic and receptive to environmental alterations, as it has been
demonstrated in nonhuman primates that changed from dichromatic to trichromatic vision following
gene transfer of the missing chromophore. In this study, the synaptic architecture in the OPL is
characterized in rat retinas following AAV mediated gene transfer. Methods: Five rats where injected subretinally with AAV2/5.CMV.gfp in both eyes ore one eye
respectively (n= 7 transduced eyes). Two rats received a unilateral mock injection with fluoresceine
(n = 2 eyes). Two rats that did not receive any injection as well as the remaining eye in animals
that received only unilateral injection were used as control animals (n=9 eyes). Eyecups were fixed
in 4% PFA and the neuroretina was prepared as flat mount to subsequently localize the GFP
expressing area in transduced eyes. Trimmed blocs were cryoprotected and frozen for later use in
immunohistochemistry. Different primary antibodies were used, including CtBP2, CaBP, DHP,
PKCa and GFP. In addition, inflammatory and pro-apoptotic marker were tested and the Tunnel
Assay for the detection of apoptotic nuclei was performed. Results: The transduced area in the retina of rats can easily be detected and localized by anti-
GFP immunolabeling. Pre- and postsynaptic structures are not altered and absolute numbers of
synaptic ribbons do not differ significantly between injected and control retina. Conclusion: The neuronal circuits in the OPL of healthy rat retinas undergoing AAV mediated
gene transfer are not altered by the presence of viral particles or the expression of GFP as
transgene. This observation likely requires further in the dog model for RPE65 deficiency in order
to determine the impact of RPE65 transgene expression on diseased retinas in animals and men.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
74
P15: Liquid Implant in Congenital Glaucoma Surgical Treatment. Nadiya Bobrova
The V.P. Filatov Institute of Eye Diseases and Tissue Therapy
Presented by Nadiya Bobrova
Introduction: New congenital glaucoma surgical treatment development Methods: The new technique of congenital glaucoma (CG) surgical treatment was elaborated, that
differs from known before flap trabeculotomy by liquid implant introduction. Operation was
performed at 29 children (47 eyes) with advanced congenital glaucoma at age 3 mo/o – 6,8 y/o
(average 14,9 + 13,1 mo/o): bilateral – 18 patients, unilateral - 11 (3 from them with Sturge-Weber
syndrome). Corneal edema and diffuse corneal opacities occurred on 39 eyes, corneal diameter
exceeded age norm on all 47 eyes and varied from 12,5 to 16,5mm. IOP was elevated to 23,0 –
45,0 (mean 31,1 + 3,38) mm Hg. US-biometry showed deep anterior chamber 3,87 + 0,32 (range
from 2,8 to 4,7) mm and enlarged axial length 24,5 + 1,84 (range 21,2 – 29,9) mm. Gonioscopy
detected goniodisgenesis II-III stages with anterior iris attachment and goniosynechias in most
cases. Results: Distinctive features of new original technique are superficial and deep scleral flats
formation; dispersive viscoelastic injection through lateral preliminary paracentesis into the anterior
chamber, mainly in operative zone, which play role of liquid implant, its additional injection between
superficial and deep scleral flats and between sclera and Tennon capsule. All operation proceeded
without complication. In early postop anterior chamber shallowing was revealed in 6 cases and
slight hyphema – in 4 eyes which resolved after medicamentous treatment with anterior chamber
depth normalisation. In follow up 3 months IOP compensation observed in all cases (mean 20,4 +
2,49 mm Hg), the anterior chamber depth and eye axial length have decreased up to 3,6 (+ 0,31)
mm and 24,1 (+ 1,9) mm accordingly, flat filtration pillow without cicatricial changes was formed in
operative zone, a pupil was round without deformations and synechias. Conclusion: Elaborated filtrative surgical technique with liquid implant introduced into the anterior
chamber, between scleral flaps and in sub-Tennon space is the pathogenetic modelity of
congenital glaucoma treatment which allowed to make new ways of intraocular fluid outflow, to
perform operation without severe complications, and to achieve stable IOP compensation in early
follow up.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
75
P16: Infants Implantation Surgery – New Approaches Nadiya Bobrova
The V.P. Filatov Institute of Eye Diseases and Tissue Therapy
Presented by Nadiya Bobrova
Introduction: To elaborete infants implantation surgery new technologies Methods: 100 children (159 eyes) aged 1-24 months (ave 9,9±5,3SD) with congenital cataracts
(atypical forms - 48,4%, total - 29,6%, zonular - 22,0%) were operated with primary IOL Acrysof in-
bag implantation. Following new technologies were developed: Anterior capsule opening in atypical
congenital cataract forms (knife, scissors and forceps) - 17 eyes (10,6%); Сongenital cataract dry
viscoaspiration in cases of posterior lenticonus - 11 eyes (6,9%); Posterior capsule opening and
dry vitrectomy after IOL implantation in cases of posterior capsule congenital abnormality - 47 eyes
(29,5%); Combination of primary IOL implantation and glasses in very little children with different
refractive variation - 29 eyes (18,2%). Results: Anterior capsule opening – helps to perform safety anterior capsule opening with
necessary; Сongenital cataract dry viscoaspiration helps to completely remove lens material from
capsule bag at suspicion on primary posterior capsule disorders; Posterior capsule opening and
dry vitrectomy after IOL implantation allow to perform safe posterior capsule opening at its central
congenital pathology and prevent vitreous loss; Combination of primary IOL implantation and
glasses allows to receive emmetropic refraction of pseudophakic infants eye after operation and in
the remote terms of supervision. Conclusion: The exploited methods allows to perform safe cataract phacoaspiration with primary
in-the-bag IOL implantation in all cases, receive emmetropic refraction of pseudophakic infants
eyes after operation and in the remote terms of the supervision that promote to improve visual
function in infants.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
76
P17: Secondary Infantile Cataract Associated with Presumed Intrauterine Infection Birgit Lorenz1, Monika Andrassi-Darida1, Melanie Jäger1, Gerd Magdowski2, Can Imirzalioglu3
1Department of Ophthalmology, Justus Liebig University, Giessen, Germany, 2Institute of Anatomy und Cellular Biology, Justus-Liebig-University, Giessen, Germany, 3Institute of Medical Microbiology and Virology, Justus-Liebig-University, Giessen, Germany
Presented by Birgit Lorenz
Purpose: To report on an under recognised aetiology of secondary cataract with uveitis in infants Methods: Analysis of lens material and vitreous collected at the time of cataract surgery in infants
with secondary cataract associated with uveitis with transmission electron microscopy TEM and
PCR for DNA/RNA of prokaryonts, bacteria and viruses. Results: Two infants, one premature, one born at term, presented with unilateral respectively
bilateral cataracts associated with inflammatory signs at 4 respectively 6 months. Presurgery
systemic erythromycine and corticosteroids together with local anti-inflammatory therapy and
medical cycloplegia reduced the inflammatory signs within days. In both infants, TEM disclosed
spiroplasma species confirmed by prokaryonte PCR. Both mothers had experienced an upper
respiratory tract infection during the third trimenon, misdiagnosed as mycoplasma infection in one,
and not further investigated in the second case. Conclusions: Spiroplasma infection may be confounded with mycoplasma infection unless PCR is
performed. Spiroplasma infection is a not yet recognised cause of secondary cataract in infancy.
One of the two cases has been published previously (Lorenz et al. Graefe`s Archive Clin Exp
Ophthalmol 2002, 240: 348-353).
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
77
P18: Cataract Surgery and Postoperative Outcome in a Child with Hallermann-Streiff Syndrome with Dysproportional Microphthalmia Werner Schmidt, Birgit Lorenz
Department of Ophthalmology, Justus Liebig University, Giessen, Germany
Presented by Werner Schmidt
Background and Purpose: Hallermann-Streiff syndrome (HSS) is characterized by malformation
of the face, congenital cataracts, short stature, and dental anomalies. We report on a girl who first
presented at age 3 months with typical symptoms of HSS. Because of dense bilateral cataract,
lens extraction, discision of the posterior capsule, and anterior vitrectomy were performed O.U..
We report on extreme preoperative ocular biometric measurements and the postoperative
outcome.
Methods: Biometry including 10 and 20 MHz sonography, ultrasonic biometry, videography of the
retina, retinoscopy, orthoptics, optic rehabilitation with contact lenses, wide-angle digital imaging of
the retina.
Results: Ocular findings at 3 months included O.U. microphthalmia, blue scleras, dense cataract,
and pupillary membrane with circular posterior synechia, Due to steep corneal curvature automatic
keratometry was not possible. Combining measurement of corneal diameter and high frequency
sonography of the anterior segment, an idealized radius of corneal curvature of 5.3 mm was
calculated. It corresponded well with the back curvature of the postoperatively fitted contact lenses
(+49 dpt/+44 dpt). By means of 20 MHz sonography, the depth of the anterior chamber and the
lens thickness were calculated to be 2.54 mm and 3.05 mm respectively (RE) with a central length
of the vitreous of only 5.42 mm. The ultrasonic measurement of the axial length (AL) of 11 mm
corresponded to the sum of the measurements of the individual compartments. The left eye
showed similar results with even smaller dimensions. At 13 months, esotropia LE was associated
with bilateral central retinal folds LE >RE likely associated with subretinal proliferation that
remained unchanged during the follow-up of 2 years. Part time occlusion was started and well
tolerated despite the pronounced central retinal changes. At 3-y, VA was 0.16 RE and 0.1 LE
(LEA). Total refraction was 54 dpt RE and 53 dpt LE.
Conclusions: Microphthalmia is a common finding in HSS. Our girl had dysproportional
microphtalmia with an AL of 11 mm and almost identical lengths of the anterior and posterior
segments. Central retinal folds were associated with limited but still measurable visual acuity.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
78
P19: Uveal Effusion Syndrome in Hallermann-Streiff Syndrome Marta Morales, Alfonso Vasquez, Mariona Vidal, Alicia Serra
Hospital Sant Joan de Déu. Barcelona
Presented by Marta Morales
Introduction: To report the ophthalmological course of a children with a Hallerman Streiff
syndrome. Methods: On 25 august 2008, a 1- month -old girl, with a Hallerman-Streiff syndrome was referred
for surgical treatment of congenital bilateral dense cataracts. Ophthalmologic examination revealed
bilateral microphthalmia with horizontal corneal diameters of 7 mm and axial length of 15 mm and
bilateral visually significant cataracts. Cataract extractions were performed at 8 and 9 weeks of
age. Contact lenses of +29D were prescribed. She developed a central, stable and maintained
vision. On September 2009 acute angle closed glaucoma was diagnosed in her right eye, and a
limbal approach anterior vitrectomy with peripheral iridectomy was performed, which resolved the
glaucoma. Intraocular pressure was normal in her left eye but the fundus exam revealed a serous
retinal detachment. Oral prednisolone was prescribed. 3 weeks later, serous retinal detachment
appears in her right eye. Both retinal detachments resolved 2 months later, except the subretinal
fluid in the papilomacular bundle in the left eye, which still persists.
Comment: Hallermann-Streiff syndrome was first described in 1958, but uveal effusion syndrome
in a nanophthalmic eye was not described until 1974 by Brockhurst. Pathophysiology is described.
In these nanophthalmic eyes, the sclera is thicker. In one hand, this induces a congestion of the
vortex veins and an extravascular leakage from choroidal vessels. In the other hand there is an
impermeability of the transscleral outflow. Both induce fluid accumulation in the choroid and the
subsequent dysfunction in the pump mechanism of retinal pigment epithelium which led to
subretinal fluid accumulation. The high pressure in the right eye prevented it from the retinal
detachment, but the subsequent resolution led to a serous retinal detachment in this eye.
Sclerotomy has been advocated for primary uveal effusion syndrome, but its efficacy in congenital
uveal effusion in microphthalmic eyes is unknown. Conclusion: Cataracts and microphthalmos are the most apparent ocular features of Hallermann-
Streiff syndrome, but retinal abnormalities may be the primary cause of poor vision.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
79
P20: Treatment of Severe Vernal Keratoconjunctivitis with 1% Topical Cyclosporine in Childrens. Mario Bellizzi1, Gianfranco Bellizzi2
1Dept. of Ophthalmology and ORL, University of Bari (Italy), 2nd O.U. Ophth., 2Studio Bellizzi
Presented by Gianfranco Bellizzi
Introduction: Vernal keratoconjunctivitis is a seasonal ocular inflammatory disease,with greater
prevalence in boys living in warm climate zones; although self-limited,VKC can induces severe
corneal complications. VKC is characterized by the presence of cellular infiltrates mainly composed
by eosinophils and T-lymphocytes. More recently,authors have proposed the direct activation of
dendritic cells,bearing high-affinity receptors for IgE,as an alternative mechanism for initiating an
allergic response in patients with or without evidence of specific IgE sensitization; moreover,the
role of NK cells in the disease by other authors,based on the evidence of consistent NK infiltrates
in the conjunctiva and low NK levels in blood of the patients. Methods: An open trial involving 197 childrens (126M - 71F,age 5-14 y.o.) with severe VKC,who
received topical cyclosporine 1% eyedrops for 4 months; ocular subjective symptoms and objective
signs were scored in all children at enrolement, 2 weeks and 4 months. Skin prick tests and
microscope endhothelial cells evaluation were also performed; serum IgE and cyclosporine levels
were assessed. Results: The mean score values for severity of subjective symptoms and objective signs were
significantly decreased after 2 weeks, and 4 months,compared with those at entry (p<0.001) in all
children. Cyclosporine serum levels were not detectable at the and of therapy,no endothelial cells
damages were evidenced. Patients who started the therapy at the beginning of the disease and/or
received long-term regimen of tretment with cyclosporine had a faster improvement of ocular signs
and symptoms,compared to all other patients. Conclusion: Our findings suggest that 1% cyclosporine concentration,in artificial tears
solution,employed topically at the beginning of the disease and for a long-term period might be the
most effective treatment to control symptoms and local inflammation in severe forms of VKC in
childhood.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
80
P21: The Management of the Bilateral Palpebral Necrotizing Fasciitis in a Newborn with Agammaglobulinemia Bruton Stefanut Anne Claudia1, Vladutiu Cristina1, Chirica Ana-Maria1, Barsan Simona2, Georgescu
Adrian2, Militaru Mihai3
1Cluj County Emergency Hospital, Ophthalmology Dept., 2University of Medicine and Pharmacy Cluj-Napoca Plastic Surgery Dept., 3University of Medicine and Pharmacy Cluj-Napoca Pediatric Dept.
Presented by Anne-Claudia Stefanut
Introduction: Necrotizing fasciitis is a severe subcutaneous tissue infection with high mortality rate
and sequelae.Agammaglobulinemia Bruton is a B-cell deficiency caused by tirosin-kinase gene
mutations.Both diseases are very rare in neonatal period. Methods: This report describes a case of a 7 weeks-old boy, twin, after artificial insemination,
presenting with bilateral fulminant palpebral necrosis, sepsis with Pseudomonas aeruginosa and
pluriorganic failure. Results: Accurate diagnosis and therapeutical management required interdisciplinary collaboration
between ophthalmologist, paediatrician, genetician and plastic surgeon. Intensive medical
treatment and gentle local debridment, partially restored the general status and preserve the
eyeballs.Surgical palpebral reconstruction was delayed by the recurrent respiratory infections.The
suspicion of the genetic immunodeficiency was confirmed later by a genetic analysis. Conclusion: This case raised many issues due to the occurrence of this bilateral disease in full
anatomical and functional development of the eyeball and of the adjacent structures in a newborn
with severe immunodeficiency.It is important to have a high index of suspicion, since early
recognition and multidisciplinary aggressive management offers the best chance for survival and
favourable visual outcome.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
81
P22: Infantil Palpebral Angioma Treated with Topical Betablockers Julia Escudero, Angel Vera, Francisco Jose Barrero
Hospital Regional Carlos Haya. Málaga, Spain.
Presented by Julia Escudero
Introduction: There are several methods of treatment for infantil angioma.Treating with
betablockers is replacing oral corticosteroids as first line of treatment and topical timolol has been
recently used with good results.
Case report: We report two cases of infantil palpebral angioma treated with betablockers. One of
the cases was treated with oral propranolol and the other with topical timolol. Results: In both cases we observed a notable improvement, with no secondary effects. Conclusion: It seems that treating infantil angioma with betablockers is replacing oral
corticosteroids as first line of treatment, although there are no studies that clarify which betablocker
must be used and the best way of application KEY WORDS: Infantil Angioma, propranolol,
betablockers
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
82
P23: Unusual Unilateral Orbital Tumor in an Infant Melanie Jaeger1, Ute Zakel2, Gerhard Alzen3, Birgit Lorenz1
1Department of Ophthalmology, Justus Liebig University, Giessen, Germany, 2Department of Paediatric Hematology and Oncology, Justus-Liebig-University Giessen, Universitaetsklinikum Giessen and Marburg GmbH, Giessen Campus, Germany, 3Department of Paediatric Radiology, Justus-Liebig-University Giessen, Universitaetsklinikum Giessen and Marburg GmbH, Giessen Campus, Germany
Presented by Melanie Jäger
Introduction: The differential diagnosis of unilateral tumors in infancy includes benign lesions
such as hemangioma and lymphangioma, and malignant tumors such as rhabdomyosarcoma and
neuroblastoma.
Case report: We describe the case of a 5-month-old girl who presented with a right progressive
exophthalmos, ptosis and eyelid-swelling for less than one week. Motility was normal as well as the
optic nerve. No other diseases were known. Ultrasonography disclosed a tumor with good
perfusion and without involvement of muscles or bone. Cranial MRI showed an extensive tumor
reaching into the apex of the orbit with enhancement on Gadolinium. On transconjunctival biopsy
very brittle and highly vascularised tumor tissue was excised. The first histologic diagnosis was
rhabdomyosarcoma, and one cycle of chemotherapy (I2VA) for rhabdomyosarcoma was started.
As the final result of the histology was rhabdoid tumor, the treatment followed according to the
European Rhabdoid Registry Study with one course Doxorubicin, two ICE courses followed by high
dose chemotherapy (Carboplatin/Thiotepa) with autologous hematopoetic stemcell rescue. Under
this therapy, the exophthalmos decreased and the tumor regressed on MRI. For local therapy
proton radiation is planned. Conclusion: Rhabdoid tumor of the orbit is a very rare and highly aggressive tumor that showed
an incomplete response to chemotherapy and is a challenge for local therapy since the outcome is
much dependent of the complete tumor eradication.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
83
P24: Rhabdomyosarcoma Masquerade Syndrome: Pitfalls in Diagnosis Reshma Thampy1, Lucy Clarke1, L Irion2, Rajitha Ajit1, Sajjid Ataullah1, Brian Leatherbarrow1
1Dept of Ophthalmology, Manchester Royal Eye Hospital,Manchester UK, 2National Ocular Pathology Service, Department of Histopathology, Manchester Royal Infirmary, Manchester, UK
Presented by Reshma Thampy
Introduction: Rhabdomyosarcoma is the most common primary orbital malignant neoplasm of
childhood. It may, however, be overlooked as a cause of orbital pathology. We present a series of
five consecutive cases, each of which was initially misdiagnosed. By demonstrating the different
clinical presentations and radiological images of these patients, we wish to highlight how
rhabdomyosarcoma may mimic other orbital disorders, leading to potentially life-threatening delays
in management. Methods: Retrospective, comparative, consecutive, interventional case series with
histopathological analyses of patients with orbital rhabdomyosarcoma from a single tertiary referral
centre. Results: Each case is presented with details of their clinical presentation including their initial
diagnosis, subsequent histological subtype, and clinical progress. Case 1: Conjunctival papilloma
Case 2: Eyelid papilloma Case 3: Langerhans cell histiocytosis Case 4: Orbital cellulitis Case 5:
Chalazion ConclusionA high index of suspicion should be maintained when examining a paediatric
patient with a history of a rapidly progressive orbital, eyelid or conjunctival lesion, with the
diagnosis of rhabdomyosarcoma presumed until proven otherwise, in order to optimise the
outcomes for this group of patients and to avoid unnecessary delays in diagnosis and appropriate
management
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
84
P25: Screening of Retinopathy of Prematurity Using Sucrose As Analgesia A. Kostakis1, P. Nag1, S. Sajjan1, J. Hodnett1, N. Ziakas2
1Doncaster and Bassetlaw NHS Foundation Trust- Doncaster UK, 2AHEPA University Hospital Department of Ophthalmology Thessaloniki Greece
Presented by Nicolaos Ziakas
Introduction: The retinopathy of prematurity (ROP), is a serious condition that potentially induce
blindness. The examination could be painful and some studies suggest the use of oral sucrose
solution as analgesic. Methods: Sucrose solution 24% was used according to the local and national protocols. We
present the results of a prospective sequential study, that took place at Doncaster Royal Infirmary
in two consecutive years.The first year babies were examined without sucrose. Pulse rate,
respiratory rate, and oxygen saturation were monitored before, during and after the examination for
ROP in both groups. Results: Increased heart rate was more evident in neonates under the age of 36 weeks.There was
less increase in respiratory rate in the sucrose group. Conclusion: No significant differences in their responses were found in patients who had oral
sucrose as analgesic.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
85
P26: Early Neonatal Creatinaemia is an Indicator of the Subsequent Risk to Develop Threshold Retinopathy Isabel George1, Ingele Casteels2, Maissa Rayyan1, Djalila Mehkali1, Karel Allegaert1
1Department of Paediatrics, University Hospitals Leuven, Belgium, 2Department of Ophthalmology, University Hospitals Leuven, Belgium
Presented by Isabel George or Karel Allegaert
Introduction: Indicators available in early life might serve to predict the subsequent relative risk to
develop threshold retinopathy (tROP) already associated with a given gestational age or weight.
We therefore evaluated if creatinaemia - reflecting disturbed microperfusion – can be used as
indicator for subsequent tROP in extreme low birth weight (ELBW, i.e. <1 000 g) neonates. Methods: Retrospective analysis of clinical characteristics (gestational age, birth weight, maximal
creatinaemia first week of life, duration of ventilation, supplemental oxygen or until full enteral
feeding) of ELBW neonates in one unit between 2000 and 2005. Neonates who developed tROP
(n=28) were compared with neonates who did not (n=119). Results: tROP cases were younger (26 vs 27 wk), smaller (745 vs 820 g), remained longer on
respiratory support (30 vs 7 days) and oxygen (66 vs 29 days). Duration until full enteral feeding
(51 vs 32 days) was also longer. Maximal creatinaemia in the first week was higher in threshold
ROP cases (1.3 vs 1.1 mg/dl) (all at least p<.001). In a logistic regression model, creatinaemia
remained significant after introduction of birth weight or age.
Conclusions: In addition to immaturity (age, weight) peak creatinaemia seems to serve as an
early available indicator for subsequent tROP. Disturbed microcirculation, both renal and retinal,
might explain this association. This indicator, already available in early neonatal life might be of
relevance for secondary prevention trials or selective screening programs.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
86
P27: Oxidative Stress - a Biomarker in Retinopathy of Prematurity Stefanut Anne Claudia1, Talu Simona1, Vladutiu Cristina1, Muresan Adriana2, Molnar Ana1,
Daicoviciu Doina2
1Cluj County Emergency Hospital, Ophthalmology Dept., 2University of Medicine and Farmacy Cluj-Napoca, Physiology Dept
Presented by Anne-Claudia Stefanut
Introduction: Retinopathy of prematurity (ROP) is a multifactorial disease. Oxygen toxicity plays
an important role in etiopathogeny of this disease.The oxidative compounds and the reduced ability
to eliminate these compounds lead to oxidative stress.The purpose of this study was to evaluate
the relationship between the oxidative stress parameters levels and the incidence ROP. Methods: A prospective cohort study was designed. Twenty-six premature newborns of less than
32 wks GA and under 1500g BW were included.Reduced GHS and MDA serum levels were
determined as a measure of oxidative stress. At 4 weeks of life samples were taken and
ophthalmological examinations were performed . The results of samples were compared between
infants who developed any degree of retinopathy of prematurity and those without it . Results: The incidence of retinopathy of prematurity was 32,5 % (8/26). The mean values of GSH
levels of the samples showed a significant difference (p=0,013)between infants who developed
retinopathy of prematurity (17,042nmol + 6,104) and those who did not (26,616nmol + 9,536). The
mean values of MDA levels of the samples showed a significant difference (p=0,00007) between
infants who developed retinopathy of prematurity (1,294nmol/ml 0,460) and those who did not
(0,561nmol + 0,181). Conclusion: There is a relationship between serum GHS and MDA levels, as a measure of
oxidative stress, and the incidence of retinopathy of prematurity.These parameters could be
biomarkers in screening and management of ROP.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
87
P28: Oxidative Stress Parameters in a Model of Oxygen Induced Retinopathy Stefanut Anne-Claudia1, Muresan Adriana2, Miclaus Viorel3, Molnar Ana1, Daicoviciu Doina2,
Moldovan Remus2
1Cluj County Emergengy Hospital, Ophthalmology Dept., 2University of Medicine and Farmacy Cluj-Napoca,Physiology dept., 3University of Veterinary Medicine Cluj-Napoca
Presented by Anne-Claudia Stefanut
Introduction: The immature retina is highly susceptible to reactive oxygen species.The purpose of
this study was to evaluate the retinal and serum levels of the oxidative stress parameters in a
model of oxygen induced retinopathy. Methods: The study has used two groups of newborn Wistar albino rats: control group(8 pups)
was raised in room air (21% O2) and oxygen exposed group(7pups) was raised under varied levels
of oxygen (80/10%) and then allowed to recover in room air. On postnatal day P21,
malondialdehyde (MDA) and reduced glutathione (GSH) levels in serum and eye homogenates
(without the lens) were determined. We have also recorded serial retinal histologic sections. Results: All retinal histologic sections from oxygen exposed group 100% (8/8), releaved preretinal
neovascularization and severe cytoarchitectural anomalies. The MDA levels was significantly
increased in both the serum (1,950nmol/ml + 0,376; 1,502nmol/ml + 0,244; p= 0,014 )and the
retina (0,121nmol/mg + 0,016; 0,037nmol/mg + 0,031; p=0,001)in oxygen exposed group and the
GSH serum levels was significantly decreased in the serum(10,710nmol/ml + 0,956;
13,497nmol/ml + 1,766; p= 0,004) but not significantly in the retina(2,599nmol/mg + 0,748;
3,141nmol/mg + 1,567) Conclusion: These results suggest the implication of lipid peroxidation processes and antioxidant
capacity in the complex pathophysiology of oxygen induced retinopathy.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
88
P29: Efficacy of Green Laser Photocoagulation for Aggressive Posterior Retinopathy of Prematurity Nadiya Bobrova
The V.P. Filatov Institute of Eye Diseases and Tissue Therapy
Presented by Nadiya Bobrova
Introduction: To estimate the efficacy of laser coagulation for patients with aggressive posterior
retinopathy of prematurity (AP-ROP). Methods: During the period from May 2009 to June 2010, 15 premature infants (29 eyes) with АР-
ROP were observed. Weight at birth was from 746 to 1680 g, the mean birth weight was 1133,267
+ 282,16 g. Gestational age ranged from 24 to 31 weeks, mean gestational age was 26,8 + 2,5
weeks. In all cases the long oxygen therapy (more than 20 days) was carried out. In 4 cases (26.6
%) the newborns have been born after in vitro fertilization. To all infants laser coagulation of
avascular retina with near-confluent laser burns has been executed. Average number of shots was
3100 per eye. The laser with wavelength of 532 nm was applied for the treatment. The mean
interval between birth and carrying out of laser intervention was 7 + 2,94 (range 4-12) weeks. The
mean follow-up time was 4,93 + 4,04 (range 1-12) months. Unfavorable structural result was
determined in accordance with the criteria of The Early Treatment for Retinopathy of Prematurity
study. Results: The positive result of laser treatment has been reached in 80 % of cases - 23 eyes (at 12
patients). On 20 eyes (10 infants) signs of regression of disease were defined on the second week
of observation. Repeat laser coagulation was required for 3 eyes (2 patients), after which
regression was also observed. In 20 % of cases - 6 eyes (3 patients) the disease progressed to
stage 5. During carrying out of laser intervention on 3 eyes (2 infants) small haemorrhages on
border vascular and avascular retina were noticed, which in the course of observation have
spontaneously resolved. Hyphema and anisocoria was observed in 4 eyes (2 cases) after laser
intervention. In the course of observation the condition is normalising. Conclusion: Тhe development of АР-ROP has increased lately, including infants with weight at
birth > 1500 g and gestational age more than 30 weeks. It can form the basis for earlier screening
and treatment of this group of infants. Our experience of application of green laser with a
wavelength of 532 nm has shown high efficiency of treatment of AP-ROP.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
89
P30: Benefit of Paint Diode Laser Coagulation in Treatment of ROP. Dana Tomcikova, Zuzana Prepiakova, Barbora Kostolna
Paediatric Ophthalmology Department Children University Hospital Bratislava
Presented by Dana Tomcikova
Introduction: Authors compare results of ROP treatment with a single spot diodlaserkoagulation
(DLK) versus paint- DLK. Methods: A retrospective chart review of patients with threshold retinopathy of prematurity treated
between 2001-2010 was conducted. Single spot laser treatment, or paint laser treatment was
applied anterior to the ridge extending to the ora serrata. Rate of progression, frequency of
retreatment complications and structural outcomes werw evaluated. Results: The single spot DLK was used from January 2001 to May 2008. In this group ( G I) there
were 300 patients ( 500 eyes). In the second group ( G II) since June 2008 to June 2010 we have
used the paint DLK in 159 patients ( 318 eyes ) . Authors compare need for reoperations to
achieve regression of ROP in both groups. In G I was retreatment with DLK necessary in 83 eyes
(13,85 %). Additional cryotherapy was used in 43 eyes (7,17 %). A scleral buckling was used in 84
eyes ( 14,02 %). In G II was DLK the retreatment used in 4 eyes ( 1,25 % ), the additional
cryotherapy in 1 eye ( 0,3 % ) and the scleral bucling in 9 eyes ( 2,2 %) Conclusion: According to our outcomes we have found out the paint DLK mode is more effective
than the single spot DLK.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
90
P31: The Challenge of the Relations Between the Parents of the Premature Babies and Paediatric Ophthalmologists. Natalya Fomina, Elvira Saidasheva
St.Petersburg's Postgraduate Medical Academy
Presented by Natalya Fomina
Introduction: The born of the premature baby is a heavy psychology stress of the family. All
parents of these babies have the “syndrome of loss” because they waited healthy baby. This
syndrome consists of 4 phases: the trouble; the negative; the anger; the adaptation. The
ophthalmologist should know this syndrome and the aim of the normal relations between the
parents of the premature babies and paediatric ophthalmologists is decreasing the manifestation of
this syndrome. Purpose: To improve the relations between the parents of the premature babies and paediatric
ophthalmologists. The information about the possible Retinopathy of Prematurity (ROP) should be
done at the birth of the premature babies or when baby was admitted to the NICU. If later – the
parents can fill the trouble repeat. Usually severe ROP has been diagnosed at the age of 36 – 38
p.a. when some of baby’s systems work better and baby moves out of the reanimation department.
The absence of the “RetCam” in the NICU forms the negative relations between the parents and
the ophthalmologist. The parents can’t see the changes of the retina and they can’t believe.
Usually they want to have the consultation of another ophthalmologist. Without registration
changes of the retina by “RetCam” any results of the lasercoagulations will be “unfavorable”. If
after surgery will be favorable outcome the parents can think that situation wasn’t so bad but laser
coagulations presents. If after surgery will be unfavorable outcome – the reason of this may be
mistake of the doctor – think parents. For improving the relations useful to show the photos of the
healthy treated babies. These photos (with information of birth weight and gestational age) may be
situated near the entrance of the reanimation department. For normal work all personals of NICU
have to know the modern information about ROP but answer for the questions of the parents
should the ophthalmologist. Conclusion: Don’t wait good relations between the parents of the premature babies and
ophthalmologists at once because there are 4 phases of the syndrome. For improving the relations
the ophthalmologist have to be attentive and thoughtful in spite of the possible harm of the parents.
“RetCam” can be expended the knowledge of the parents about ROP and helps to improve the
relations.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
91
P32: Retinal Nerve Fiber Layer Thickness in Children Measured by Spectral Domain OCT Christina Pieh-Beisse, Gesa Behnke, Daniel Boehringer, Wolf Lagrèze
Uiversity Eye Hospital, University of Freiburg, Germany
Presented by Christina Pieh-Beisse
Introduction: Our aim was to determine normative values in children for peripapillary retinal nerve
fiber layer (RNFL) thickness measured by spectral domain Optical Coherence Tomography (OCT).
Further, we studied a possible correlation between the RNFL thickness and the examined age
range and evaluated the correlation with clinical variables. Methods: The peripapillary RNFL of 54 healthy, term-born children (23 males, 31 females) aged
between four and nine years (mean 6.2yrs) was imaged with a high-resolution spectral domain
OCT (Spectralis OCT, Heidelberg Engineering). RNFL thickness was measured around the optic
nerve head using 16 automatically averaged, consecutive circular B-scans with 3.4mm diameter.
The automatically segmented RNFL thickness was divided into 32 segments (11.25° each). One
randomly selected eye per subject entered the study. Results: Mean RNFL thickness in the study population was 100.7±7.9µm. Mean inferior RNFL
thickness was 130.1±34.6µm, superior 123.6±34.0µm, nasal 75.0±29.5µm, and temporal
73.8±21.3µm. These measures are comparable to RNFL thickness reported in adults (Baleanu D,
et al. J Glaucoma, online first 2009). There was no significant change of RNFL thickness over the
examined age range (r=-0.143, p=0.3221). Neither axial length (r=-0.348; p=0.1712) nor refractive
error (r=0.265; p=0.1735) showed a significant correlation with RNFL thickness. Conclusion: RNFL thickness measured by spectral domain OCT in children is comparable to the
results reported in adults. Measurements in children aged ≥4 do not require an age adjusted
normative database but can be compared to normative adult values.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
92
P33: Fluorescein Angiography-Guided Management of Retinopathy in Incontinentia Pigmenti: A Case Series. Reshma Thampy, Sonia George, Jane Ashworth, Ian Chris Lloyd, Susmito Biswas
Department of Paediatric Ophthalmology, Manchester Royal Eye Hospital,Manchester,UK
Presented by Reshma Thampy
Introduction: Debilitating visual loss secondary to tractional retinal detachment is one of the most
serious sequelae of Incontentia Pigmenti (IP). Early signs of preceding ischaemic retinopathy can
be clinically imperceptible. We describe our experience in three consecutive cases of IP where
fundal fluorescein angiography elicited varying degrees of peripheral retinal ischaemia. This
enabled individually tailored management with prompt treatment, where appropriate, to minimize
sight threatening complications. Methods: A retrospective, comparative,interventional case series of three paediatric patients with
IP from a single quaternary referral centre. The clinical course and angiographic findings of each
patient are described Results: Case 1: This patient suffered rapidly progressive retinal ischaemia, which presented as
peripheral fundal haemorrhages. Sudden subsequent retinal detachment in one eye, was surgically
unsalvageable. In the fellow eye however, fluorescein angiography demonstrated extensive areas
of abnormal vascular arborisation, neovascularisation and vessel leakage. Sectoral panretinal
photocoagulation to these regions halted progression of tractional detachment, and preserved
navigational vision. 2: Both retinae appeared unremarkable until examination under anaesthesia
with fluorescein angiography. This revealed peripheral fundal ischaemia demonstrated by a clearly
identifiable non-perfused temporal zone with vascular pruning and peripheral leakage. Immediate
sectoral panretinal photocoagulation was performed and to date the disease has remained
quiescent. 3: This case also did not exhibit obvious ischaemia clinically. An examination under
anaesthesia was with fluorescein angiography revealed peripheral retinal ischaemia, however,
there was no demonstrable vascular leakage. It was therefore concluded that interventional laser
was not immediately warranted and that regular repeat examinations would suffice.
Conclusion: IP can result in devastating visual loss in early childhood. These cases illustrate how
retinal disease and clinical course exhibit considerable variability and how fundus fluorescein
angiography can detect occult disease and guide management. Digital photography and archiving
systems are thus invaluable to compare serial examinations, highlight areas of progressive disease
and facilitate prompt treatment. In IP, early diagnosis with regular fundoscopy enhanced by
fluorescein angiography is imperative.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
93
P34: Macula and Nerve Fiber Layer Thickness in Amblyopia: an Optical Coherence Tomography Study Lígia Ribeiro, Eduardo Saraiva, Rosário Varandas, Marisa Oliveira
Centro Hospitalar Vila Nova de Gaia/Espinho EPE
Presented by Lígia Ribeiro
Purpose: 1. To determine whether retinal nerve fiber layer (RNFL), macular thickness (MT) and
foveal volume (FV) in patients with unilateral amblyopia of different etiologies differ between the
amblyopic and sound eye 2. To test the hypothesis that RNFL, MT or FV from eyes with
established amblyopia differ from those with potentially reversible amblyopia 3. Review of the
literature Methods: Patients were prospectively recruited with the diagnosis of unilateral strabismic
amblyopia, anisometropic amblyopia, or both. They were divided in two groups: well-established
amblyopia and under-treatment amblyopia. A detailed eye examination was conducted, including
refractive error, determination of best-corrected visual acuity, ocular motility and alignment
evaluation and optical coherence tomography (StratusOCT) through dilated pupils to obtain maps
of macular and RNFL thicknesses of sound and amblyopic eyes. Results: Twenty patients (40 eyes) were examined (10 male, 10 female; mean age 13,45 ± 12,6
years; range 5-45). Mean foveal minimum thickness was 8% lower in the sound eyes than in the
amblyopic eyes (169 µm vs 156 µm, p=0.006). Amblyopic eyes also had slightly thicker central
macula (1mm diameter region), although these differences were not statistically significant. Conclusion: Histopathologic changes in the lateral geniculate nucleus and visual cortex have
been reported but it remains unclear whether the retina is also affected in amblyopia. Studies that
have observed the presence of retinal modifications in amblyopic eyes remain inconclusive and
controversial. In our study foveal minimum thickness was significantly greater in the amblyopic
than in the normal eyes.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
94
P35: Optical Coherence Tomography – Device Independent Automatic Segmentation of Intraretinal Layers Alexander Ehnes1,2, Erdmuthe Meyer zu Bexten2, Birgit Lorenz1
1Department of Ophthalmology, Justus Liebig University, Giessen, Germany, 2Department of Informatics, University of Applied Sciences Giessen, Giessen, Germany
Presented by Alexander Ehnes
Purpose: Since the introduction of optical coherence tomography in 1996 it has become the most
important non-invasive method for examining the retina. To date, mostly 3rd and 4th generation
OCT devices from different manufacturers are in clinical use. However, the vast amount of data
that is produced by the high definition live images requires the presence of an experienced
examiner. The aim of this project is to develop an OCT-Device independent method for the
automated segmentation of intraretinal layers. This application will support the examiner in routine
clinical examinations and shorten decision making processes for the ophthalmologist. Method: An
algorithm for automatic segmentation of retinal layers based on an active contour approach
combined with iterative Region Growing was developed. In addition, preprocessing methods to
reduce the noise, inhomogeneous contrast histories and artifacts such as vascular shadows were
implemented. The software can use OCT data formats from the Stratus OCT (Zeiss Meditec) and
OCT-Spectralis (Heidelberg Engineering). Raw data from healthy volunteers and form patients with
early onset severe retinal dystrophy (EOSRD) were used for testing the software and generate
basic values. Result: Currently, the analysis software can be used with data formats from time
domain (Stratus III, Zeiss Meditec) and spectral domain (Spectralis, Heidelberg Engineering) OCT
devices. Using Data from RtVue 100 (Optovue Corp) and Cirrus (Zeiss Meditec) is anticipated. The
software is able to segment up to seven layers without user interaction (NFL, GCL, IPL, INL, OPL,
ONL and RPE). Manual optimization of additional layer segmentation is possible. Thickness of the
layers can be measured automatically. Raw OCT Data from healthy volunteers and from patients
affected with EOSRD have been analyzed, and alterations between layer thickness and derivability
of single layers can be observed. Conclusion: The newly developed software is capable to automatically analyze OCT tomograms
for intraretinal layer segmentation and thickness measurement of single layers. The software is
independent of the source of the raw data and will be used in combination with the device
independent OCT analysis (DIOCTA) software developed by our group.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
95
P36: Optical Coherence Tomography - Automatic Segmentation of Locally Limited Structures Matthäus Pilch1,2, Erdmuthe Meyer zu Bexten2, Knut Stieger1, Birgit Lorenz1
1Department of Ophthalmology, Justus Liebig University, Giessen, Germany, 2Department of Informatics, University of Applied Sciences Giessen
Presented by Matthäus Pilch
Purpose: With the development of spectral domain OCT technology, live images of the retina with
high resolution have started to reveal pathological changes with high precision. However, manual
detailed analysis of small and locally limited structures is time-consuming and requires a highly
experienced examiner. This project aims at developing software solutions for the automated
segmentation and subsequent identification of structures that occur in the normal retina (i.e. blood
vessels) and during the process of various retinal disorders, such as hemorrhages, exudates,
deposits, or other lipid inclusions. Methods: Initially, two different methods for automatic segmentation of locally limited structures
were combined: the statistical shape model segmentation, and the shape representation via point
distribution model. In order to identify small irregularities within the located structure, a deformable
contour model segmentation process has then been included. Volumetric analysis can be
performed. Raw data performed with the Spectralis OCT (Heidelberg Engineering) from healthy
humans and from subjects affected with early onset severe retinal dystrophies EOSRD due to
mutations in different genes have been analyzed. Results: The software can be used with OCT raw data from currently available OCT devices, e.g.
the Spectralis OCT (Heidelberg Engineering), the Stratus III OCT (Zeiss Meditec), the RTVue100
(Optovue Inc.), and the Cirrus (Zeiss Meditec). The software readily identifies different locally
limited structures, both, within normal and diseased retina. Blood vessels of different sizes were
analyzed using raw data from OCT scans of normal subjects. In addition, pathological changes
(exudates, drusen, other deposits) have been located and the size of the structures was
calculated. Conclusion: Using the newly developed software, time domain and spectral domain OCT scans
can be automatically screened for locally limited structures. In combination with the device
independent OCT analysis (DIOCTA) software developed by our group, this feature will help to
facilitate the decision making process for the ophthalmologist.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
96
P37: Introducing an Application for the Analysis, Segmentation and Interpretation of OCT Investigations Applicable for Multiple Devices Steffen Zahn1,2, Matthäus Pilch1, Alexander Ehnes1, Elisabeth Strohmayr1, Birgit Lorenz1, Erdmuthe Meyer zu Bexten2 1Department of Ophthalmology, Justus-Liebig-University Giessen, Universitaetsklinikum Giessen and Marburg GmbH, Giessen Campus, Germany, 2Department of Informatics, University of Applied Sciences Giessen, Giessen, Germany
Presented by Steffen Zahn
Purpose: The correct clinical diagnosis of retinal degenerative disorders normally requires the
presence of experienced ophthalmogenetic specialists. The vast amount of data generated with
current technologies requires the use of sophisticated applications for subsequent analysis. The
aim of this project is to develop uniformly useable methods for the computer-aided analysis of OCT
Data from patients with retinal dystrophies or cone dysfunctions, (i.e. early onset severe retinal
dystrophy (EOSRD) or achromatopsia), which have been acquired with different OCT-Devices, in
order to support and shorten the decision making process for the ophthalmologist. Methods: Raw Data from currently available OCT devices can be imported into the new analysis
software. The application provides methods for image enhancement, image manipulation and
image analysis. Image quality can be enhanced by different B-Scan visualization modes and
different techniques of noise reduction. In addition, automatic layer segmentation has been
developed. Raw data from patients with EOSRD due to mutations in the RPE65 gene and with
achromatopsia due to mutations in the CNGB3 gene have been analyzed with the software. Results: Currently, raw data from the Spectralis OCT (Heidelberg Engineering) and the Stratus III
OCT (Zeiss Meditec) are supported. Inclusion of RTVue100 (Optovue Inc.) and Cirrus (Zeiss
Meditec) is anticipated. The fully-automated layer segmentation approach is able to segment up to
7 layers (NFL, GCL, IPL, INL, OPL, ONL and RPE) without the need of user interference.
Segmented layers and manually added shapes, such as area or distance measurements, can be
manipulated in different ways. A uniform representation of the retina can be achieved by RPE
alignment. When analyzing raw OCT data and additional clinical information from EOSRD and
achromatopsia patients, typical pathological features can be visualized and highlighted. Discussion: The evaluation process of OCT investigations in patients with EOSRD and
achromatopsia benefits already from the provided methods. Further improvements to the software,
such as automatic analysis and interpretation of disease specific properties, automated
segmentation and analysis of locally limited structures, and the creation of a knowledge base that
covers information about disease specific properties, structures and phenotype genotype
correlation will greatly improve quantification of retinal diseases and treatment effects in the near
future.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
97
P38: Best Disease - A Case Report Elzbieta Markowska, Jadwiga Bakunowska, Danuta Sielicka, Monika Ozieblo-Kupczyk, Alina
Bakunowicz-Lazarczyk
Department of Pediatric Ophthalmology
Presented by Elzbieta Markowska
Introduction: Best disease (BS, Best vitelliform macular dystrophy) (OMIM#153700) belongs to a
rare, slowly progressive, genetically determined disorders. It is transmitted in an autosomal
dominant manner with variable expressivity and incomplete penetrance. BEST1 gene, responsible
for BS appearance, was localized on the long arm of chromosome 11q13. This gene codes the
bestrophin-1 protein, which is found in retinal pigment epithelium (RPE). Mutation in BEST1 gene
leads towards lipofuscin accumulation in RPE, between RPE and Bruch’s membrane, in external
parts of photoreceptors and Muller’s cells. Purpose: The main aim of our work was to present a 9-years-old girl with ocular signs of Best
syndrome Methods: 9-years-old patient was admitted to our Ophthalmology Clinic on March 2009. First
visual problems with unclear vision appeared at 2 years. The Best disease diagnoses was set up
due to characteristic clinical findings in electroretinograthy (ERG), optical coherence tomography
(OCT) and electrooculogram (EOG). Results: Typical for BS signs on the eye fundus confirmed by EOG, OCT and ERG allowed us to
set up a diagnosis of Best syndrome. The early diagnosis in our patient gives her an opportunity for
further constant visits in Ophthalmology Clinic. This allows us to monitor changes in the eye fundus
and then apply treatment then complications such as choroidal neovascularization will be visible.
We postulated for the whole family ophthalmologic examination, as BS is usually of familial
occurrence and may represent variable expressivity and incomplete penetrance.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
98
P39: Severe Optic Neuropathy Mimicking Leber Hereditary Optic Atrophy in a Friedreich’s Ataxia Patient. Yaumara Perdomo- Trujillo1, Fouzia Studer-Rezaiguia1, Valérie Pelletier1, Jonathan Letsch1,
Jérôme De Seze2, Hélène Dollfus1
1Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO) et Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., 2Pole Tête- Cou- CETD, Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Presented by Yaumara Perdomo-Trujillo
Friedreich’s ataxia (FRDA) is an autosomal recessive neurodegenerative disease and the most
frequent hereditary ataxia. The gene encodes a small mitochondrial inner membrane protein called
frataxin. The most common mutation is a GAA triplet-repeat expansion within the first intron of the
frataxin gene (FXN). Most patients carry two expanded GAA alleles. A small but significant number
of FRDA patients are compound heterozygous with (GAA) n mutations on one allele and a
micromutation on the other. A slowly progressive degenerative process involving both the optic
nerve and the optic radiations has been reported but exceptionally cause severe visual loss. Optic
neuropathy appears to occur late in the course of FRDA and occurs more frequently in patients
with larger GAA repeats and also more frequently in compound heterozygotes than homozygotes.
Severe optic neuropathy is common in mitochondrial disorders but however has very rarely been
reported in FRDA. We describe here a 38-year-old man with sudden and markedly diminished
visual acuity (light perception) associated with temporal optic disks pallor, bilaterally. He was
diagnosed as having Friedreich’s ataxia at 12 years old. Molecular genetics analysis showed two
expanded GAA FXN alleles (2.4 Kb and 4.1 Kb respectively). The mitochondrial point mutations for
Leber hereditary optic neuropathy were not identified. Electrophysiology test revealed normal
retinal function. A subacute/ acute visual failure mimicking Leber hereditary optic neuropathy can
be observed in FRDA in contrast to the classical very slow progression of FRDA optic neuropathy.
Conflict of Interest: None Author does not allow recording of the presentation.
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
99
P40: Retinal Neovascularisation, Blepharokeratoconjunctivitis and Progressive Entropion in a Young Girl with Autosomal Dominant Severe Dyskeratosis Congenita (DC) Due to TINF2 Gen Francoise Roulez1, Yves Sznajer2, Barbara Kadz1, Chantal Dangoisse3, Francoise Meire1
1Dept Ophthalmology HUDERF Brussels, 2Pediatric Clinical Genetic HUDERF Brussels, 3Dept Dermatology HUDERF Brussels
Presented by Francoise Roulez
Dyskeratosis ongenita (DC) represents a genetically heterogeneous disease caused by defects in
telomere biology. X-linked recessive forms are due to mutation in Dyskerin (DKC1) gene;
autosomal recessive forms are due to mutations in NOP10 or NHP2 genes and autosomal
dominant forms to mutations in TERC, TERT or TINF2 genes. Affected patients developed
leukoplakia, nail dystrophy, abnormal skin pigmentation together with bone marrow failure
syndrome. We report the natural history of a 14 year-old girl, second child from healthy parents.
She developed aplastic anemia at the age of 3 that required bone marrow transplantation. Her
intelligence and development were normal. She developed few premature grey hair with small area
of alopecia, oral leukoplakia, ungueal dystrophy and very large dyskeratosis on the perineal region
. Ophthalmological features were right peripheral retinal ischemia and bilateral blepharitis with
slight punctate keratitis and progressive entropion. Graft versus host disease or DC were
suspected diagnosis. Combined DHPLC and direct DNA sequencing of TINF2 gene identified a
c.847C>G (p.Pro283Ala) mutation. This mutation occurred de novo since both parents were not
detected as carrier. TINF2 gene (TERC-1-interacting nuclear factor 2; 6 exons on 14q11.2) is a
member of genes encoding for the shelterin complex proteins. It was recently identified responsible
for severe DC and account for up to 11 % in patients with DC. We review the ophthalmological
features of this multisystemic disorder.
Conflict of Interest: None
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
100
P41: Nanophthalmos: A Family Case Report Eduardo Marinho Saraiva, Lígia Ribeiro, Rosário Varandas, Luís Agrelos
Centro Hospitalar de Vila Nova de Gaia e Espinho, EPE
Presented by Eduardo Marinho Saraiva
Introduction: Nanophthalmos is a rare condition characterized by eyes with short axial lengths
and high hyperopia, but without gross structural defects. Clinical Case: The authors present three
cases of Nanophthalmos in a Portuguese family, consisting of a mother and two daughters (5 and
2 years old). All three have ocular axial lengths shorter than 16 mm, and hyperopia ranging from 9
to 16 diopters. The anterior segment was analysed with Orbscan and Optical Coherence
Tomography (OCT): the mean keratometric value was 51.05 diopters, the mean pachimetry value
was 564 μm and the anterior chamber depth and volume were normal. There was an increase in
the corneal resistance measured by the Ocular Response Analyzer. Two of the family members
had chorioretinal folds and a yellow macular pigmentation, evaluated by fundoscopy, retinography
and OCT. The authors are currently waiting for the results of the genetic analysis. The older patient
wanted refractive surgery, so the authors evaluated the different options available. Conclusion: Nanophtalmos can result in significant visual impairment. If the diagnosis is late, it
can lead to amblyopia. Nanophthalmic patients have a high risk of developing angle-closure
glaucoma in the third to sixth decades of life Refractive surgery in nanophthalmos remains
challenging, because of the increased surgical risk and because of the lens power needed to
correct the high hyperopia.
Conflict of Interest: None Author does not allow recording of the presentation.
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
101
P42: Increased C/D Ratio in Noonan Syndrome Nikolaos Ziakas1, Despina Tzetzi1, Kostantinos Boboridis1, Ioannis Tsinopoulos2, Nikolaos Kozeis3
1AHEPA university hospital, 2Papageorgiou university hospital, 3Ipokratio University hospital
Presented by Nikolaos Kozeis
Introduction: A 14-year old child with characteristic findings of Noonan syndrome including short
stature, mental handicap, and Kryptorchismus is presented. Methods: We did fundus photo and HRT. Results: The ophthalmologic investigation resulted a increased C/D ratio with normal intraocular
pressure (IOP). Conclusion: To our knowledge this is the second published case of Noonan syndrome with
increased C/D ratio and normal IOP.
Conflict of Interest: None Author does not allow recording of the presentation.
36th Annual Meeting of the European Paediatric Ophthalmological Society
Abstracts – Poster Presentations
102
P43: Non-syndromic bilateral and unilateral optic nerve aplasia associated with microdeletion of 10q23.33q23.33: first familial case and potential role of CYP26A1 and CYP26C1 genes
Françoise Meire1, Catherine Christophe2, Françoise Roulez1, Björn Menten3, Elfride De
Baere3
1Department of Ophthalmology, Queen Fabiola Children's University Hospital, Brussels, Belgium, 2Department of Radiology, Free University of Brussels, 3Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium;
Presented by Francoise Meire
Optic nerve aplasia (ONA, MIM #165550) is a very rare unilateral or bilateral condition that
includes absence of the optic nerve, of the retinal ganglion cells and the retinal vessels with
blindness of the affected eye. Bilateral cases often occur in association with brain malformations .
Nevertheless unilateral and bilateral ONA has been reported in otherwise healthy patients. Both
pathogenesis and genetic basis of ONA remain until now unknown . So far, there is no
documented familial ONA . We report an autosomal dominant ONA with three-year-old dizygotic
healthy blind twins (from non consanguineous parents) with normal appearing eyes and bilateral
ONA and their father with left microphthalmos. The diagnostic value of neuro-imaging in
uncovering ONA in microphthalmic patients is demonstrated Ultrasonography with Doppler and
MRI in the twins showed almost normal structure of both eyes but absence of optic nerves, central
retinal vessels, chiasm and tracts. Ultrasonography in the father showed a normal right eye but left
heterogeneous microphtalmos that prevented approach of the optic nerve. MRI demonstrated left
ONA with chiasm and optic tracts asymmetry (L>R)). Anatomy of the brain and of the pituitary
gland was normal in the 3 patients. Optic radiations on DTI (deterministic tractography) were
present but decreased in size symmetrically in both children and asymmetrically (L>R) in the
father. Mutation screening in three developmental genes PAX6, OTX2 and SOX2 revealed no
pathogenic mutations . Genomewide copy number screening revealed a 249-363 kb microdeletion
of chromosome 10q23.33q23.33 in all affected individuals and in unaffected grandmother,
containing three genes EXOC6, CYP26A1 and CYP26C1. The latter two encode retinoic acid
degrading enzymes. Our findings implicate the CYP26A1 and CYP26C1 genes as potential novel
candidate genes for non-syndromic ONA. Moreover, it is attractive to postulate that disregulated
RA metabolism caused by CYP26A1 and CYP26C1 haplo-insufficiency influenced by as yet
uncovered modifiers and environmental factors might underlie the ONA phenotype presented here.
36th Annual Meeting of the European Paediatric Ophthalmological Society
Invited Lecturers
103
Bennett, Jean, Prof. Dr. University Of Pennsylvania Ophthalmology 309C SCL; 422 Curie Blvd Philadelphia 19104 - UNITED STATES Phone: +1-12158980915 Fax: +1-12158980915 jebennet@mail.med.upenn.edu Bowman, Richard, Dr. Great Ormond St Hospital For Children Ophthalmology Great Ormond St London WC1N3JH UNITED KINGDOM Phone: +44-1883712920 richardandruthbowman@gmail.com Ciomartan, Tatiana, Dr. Institute For Mother And Child Care "A. Rusescu" Paediatric Intensive Care bd. Lacul Tei nr. 120, sector 2 020395 Bucharest ROMANIA Phone: +40-722954693 Fax: +40-212422709 tatianaciomartan@yahoo.co.uk Cremers, Frans, Prof. Dr. Radboud University Nijmegen Medical Centre Human Genetics Geert Grooteplein 10 6525 GA Nijmegen - NETHERLANDS Phone: +31-243613750 F.Cremers@antrg.umcn.nl Gal, Andreas, Prof. Dr. University Medical Center Eppendorf Institute Of Human Genetics Martinistraße 52 20246 Hamburg - GERMANY Phone: +49-40-74105-2120 Fax: +49-40-74105-5138 gal@uke.de Hammes, Hans-Peter, Prof. Dr. Universitätsmedizin Mannheim, University Of Heidelberg 5th Medical Department Theodor-Kutzer-Ufer 1-3 68167 Mannheim - GERMANY Phone: +49-621-383-2663 hp.hammes@umm.de
Haverkamp, Silke, PD Dr. Max Planck Institute For Brain Research Neuroanatomy Deutschordenstr. 46 60528 Frankfurt/Main - GERMANY Phone: +49-69-6769-236 Fax: +49-69-6769-206 haverkamp@mpih-frankfurt.mpg.de Hoffmann, Michael B., PD Dr. Otto-Von-Guericke-University Ophthalmology Leipziger Str. 44 39120 Magdeburg - GERMANY Phone: +49-391-6713585 Fax: +49-391-6713570 michael.hoffmann@med.ovgu.de Nascutzy, Constanta, Dr. Institute For Mother Child Care Ophthalmology B-dul Lacul Tei nr 120,S2 020395 Bucharest - ROMANIA Phone: +40-722850143 Fax: +40-212123843 constnascutzy@yahoo.com Preissner, Klaus T, Prof. Dr. Justus-Liebig-University Biochemistry, Medical School Friedrichstrasse 24 35392 Giessen - GERMANY Phone: +49-641-994-7500 klaus.t.preissner@biochemie.med.uni-giessen.de Seeliger, Mathias, Prof. Dr. Institute For Ophthalmic Research, Dept. Of Ophthalmology Division Of Ocular Neurodegeneration Schleichstr. 4/3 72076 Tübingen - GERMANY Phone: +49-7071-2980718 see@uni-tuebingen.de Wallace, David, Dr. Duke Eye Center DUMC 3802 Durham, NC 27710 - UNITED STATES Phone: +1-919-684-8417 david.wallace@duke.edu
36th Annual Meeting of the European Paediatric Ophthalmological Society
Participants
104
Ababneh, Laila, Dr. University Hospital Goettingen UMG Ophthalmology Am Vogelsang 1/ App. 302 37075 Goettingen - GERMANY Phone: +49-17632148574 lilianajo@yahoo.com Abelairas, Jose, Dr. La Paz Hospital Ophthalmology Paseo De La Castellana 261 28046 Madrid SPAIN Phone: +34-917334759 jabelairas@gmail.com Åkerblom, Hanna, Dr. Dep.Of Ophthalmology Akademiska Sjukhuset Sjukhusv. 1 75309 Uppsala - SWEDEN Phone: +46-18-6110000 hannamcarlsson@hotmail.com Alberti, Zsuzsanna, Semmelweis University 30 Petofi S. 2500 Esztergom - HUNGARY Phone: +36-4111181 alberti.zsuzsanna@gmail.com Aliferis, Konstantinos, Dr. Centre De Référence Pour Le Affections Rares En Génétique Ophtalmologique 1, place de l'hôpital BP 426 67091 St Strasbourg - FRANCE Phone: +33-698715516 konstantinos.aliferis@chru-strasbourg.fr Allegaert, Karel, Prof. Dr. University Hospitals Leuven Neonatal Intensive Care Unit Herestraat 49 3000 Leuven - BELGIUM Phone: +32-16-343211 Fax: +32-16-343209 karel.allegaert@uz.kuleuven.ac.be Andrassi-Darida, Monika, Dr. Justus-Liebig University Department of Ophthalmology Friedrichstr. 18 35392 Giessen - GERMANY Phone: +49-641-99-43820 Fax: +49-641-99-43809 monika.andrassi@augen.med.uni-giessen.de
Asawaphureekorn, Somkiat, Dr. Khon Kaen University Khon Kaen, Thailand 40002 Khon Kaen - THAILAND Phone: +66-43348383 Fax: +66-43348383 somkiat.asawa@gmail.com Austeng, Dordi, PD Dr. Uppsala University University Hospital 75185 Uppsala - SWEDEN Phone: +46-4747352135 dordi.austeng@neuro.uu.se Aznauryan, Igor, Prof. Dr. Association Of Pediatric Ophthalmology Clinics "Yasniy Vzor Association Of Pediatric Ophthalmology Clinics Bakuninskaya str. 94/1 107082 Moscow - RUSSIAN FEDERATION Phone: +7-4959213772 Fax: +7-4959213772 aznaurjan@mail.ru Bakunowska, Jadwiga, Dr. Children's Hospital In Bialystok Of Pediatric Ophthalmology 17 Waszyngtona Street 15-274 Bialystok - POLAND Phone: +48-857450858 jadwiga_bakunowska@wp.pl Bakutkin, Valery, Prof. Dr. Saratov State Institute Of Rural Hygiene Ophtalmology Kirova 23-3 410017 Saratov - RUSSIAN FEDERATION Phone: +7-89042412185 Fax: +7-88452272706 bakutv@bk.ru Balasanyan, Victoria, PD Dr. Association Of Pediatric Ophthalmology Clinics "Yasniy Vzor Association Of Pediatric Ophthalmology Clinics Bakuninskaya str. 94/1 107082 Moscow RUSSIAN FEDERATION Phone: +7-4959213772 Fax: +7-4959213772 balasanyan@prozrenie.ru Barnes, J Kate, Dr. Oxford Eye Hospital, John Radcliffe Hospital Headley Way Oxford OX3 9DU - UNITED KINGDOM Phone: +44-7941225834 j.kate.barnes@gmail.com
36th Annual Meeting of the European Paediatric Ophthalmological Society
Participants
105
Beisse, Christina, Dr. University Of Freiburg University Eye Hospital Killianstraße 5 79106 Freiburg - GERMANY Phone: +49-761-2704001 christina.beisse@uniklinik-freiburg.de Bellizzi, Gianfranco, PD Dr. Studio Oculistico Bellizzi Corso Cavour 97 70121 Bari - ITALY Phone: +39-0805211751 segreteria@studiobellizzi.net Blum, Robert, Dr. Tennent Institute Of Ophthalmology Ophthalmology Gartnavel General Hospital, 1053 Great Western Road Glasgow G12 0YN - UNITED KINGDOM Phone: +44-7786481909 r.blum@doctors.org.uk Bobrova, Nadiia, Prof. Dr. SI "Filatov Eye Institute Of AMS Of UA" Pediatric French blvrd, 49/51 65061 Odessa - UKRAINE Phone: +380-503363767 filatovbobrova@mail.ru Bolz, Hanno, PD Dr. Bioscientia Center For Human Genetics Konrad-Adenauer-Str. 17 55218 Ingelheim - GERMANY Phone: +49-06132-781206 Fax: +49-06132-781298 hanno.bolz@bioscientia.de Bremond-Gignac, Dominique, Prof. Dr. University Hospital of Amiens Ophthalmology 354 Bd de Beauvillé 80054 Amiens - FRANCE Phone: +33-3-22-82-41-08 Fax: +33-3-22-82-40-61 bremond.dominique@chu-amiens.fr Brito, Cristina, Dr. CHLC R Jacinta Marto 1700 Lisboa - PORTUGAL Phone: +351-914749530 cristinabbrito@sapo.pt
Brown, Raymond, Dr. University Hospital Of North Sordshire Ophthalmology Princes Road Stoke-On-Trent ST4 7LN - UNITED KINGDOM Phone: +44-1782-750913 browneyes@doctors.org.uk Carrim, Zia I., Dr. St James's University Hospital Ophthalmology Beckett Street Leeds LS9 7T - UNITED KINGDOM Phone: +44-7960120180 zia.carrim@doctors.org.uk Cassiman, Catherine, Dr. University Hospitals Leuven Kalkoven 52 1730 Asse - BELGIUM Phone: +32-474-51-64-91 cathycassiman@hotmail.com Castanera, Ana, Dr. Instituto Castanera de Oftalmología Via Augusta 20 08006 Barcelona SPAIN Phone: +34-932173704 anacastanera@gmail.com Casteels, Ingele, Prof. Dr. University Hospitals Leuven Ophthalmology Capucijnenvoer, 33 3000 Leuven - BELGIUM Phone: +32-16-332660 Fax: +32-16-332367 Ingele.Casteels@uzleuven.be Català-Mora, Jaume, Hospital Sant Joan De Déu. Oftalpilar Passeig Sant Joan de Déu, 2 08950 Esplugues De Llobregat. Barcelona - SPAIN Phone: +34-932532100 info@jaumecatala.com Chiambaretta, Frédéric, Prof. Dr. Hôpital Gabriel Montpied Service D'ophtalmologie B.P. 69 63003 Clermont-Ferrand - FRANCE Phone: +33-473981451 Fax: +33-473981424 m.moneron@laboratoires-thea.fr
36th Annual Meeting of the European Paediatric Ophthalmological Society
Participants
106
Choposvka, Yaroslava, Dr. Justus-Liebig University Department of Ophthalmology Friedrichstr. 18 35392 Giessen - GERMANY Phone: ++49-641-99-43820 Fax: ++49-641-99-43809 yaroslavaC@gmx.de Clement Corral, Ana, Dr. Hospital Universitario Niño Jesus Ophthalmology Avda Menendez Pelayo 65 28009 Madrid - SPAIN Phone: +34-647756788 anaclement@yahoo.com de Haller, Raoul, Dr. Clinique Universitaire d'Ophtalmologie 22 Rue Alcide Jentzer 1241 Geneve - SWITZERLAND Phone: +41-223728400 Fax: +0041223728400 raoul.dehaller@hcuge.ch Debackere, Anneke, Dr. Private practice Alfred Nichelsstraat 4 9300 Aalst - BELGIUM Phone: +32-53700407 dr.debackere@scarlet.be Deconinck, Hilde, Dr. UZ Brussel Ophthalmology Laarbeeklaan 101 1090 Brussel - BELGIUM Phone: +32-476398995 hilde.deconinck@uzbrussel.be Delbeke, Patricia, Dr. University Hospital Ghent Paediatric Ophthalmology De Pintelaan 185 9000 Ghent - BELGIUM Phone: +32-93322906 patriciadelbeke@skynet.be Depasse, Fanny, Dr. Erasme ophthalmology Route de Lennik, 808 1070 Bruxelles - BELGIUM Phone: +32-2-5554514 Fax: +32-2-5556737 fadepass@ulb.ac.be
Doan, Serge, PD Dr. Fondation Rotschild Service D'ophtalmologie 25-29, rue du Manin 75019 Paris - FRANCE Phone: +33-473981451 Fax: +33-473981424 m.moneron@laboratoires-thea.fr Dollfus, Hélène, Prof. Dr. Inserm - Hôpitaux Universitaires De Strasbourg Laboratory Medical Genetics - CARGO 11 rue Humann 67000 Strasbourg FRANCE Phone: +33-388128120 Fax: +33-388128125 helene.dollfus@chru-strasbourg.fr Domsa, Patricia, Dr. Hpch Madarasz Street Children’s Hospital Dept. Pediatric Ophthalmology 29. Gyöngyösi Street 1131 Budapest - HUNGARY Phone: +36209376078 patriciadomsa@gmail.com Dupont, Christine, Dr. LaboratoiresThéa International Medical Marketing 12 rue Louis Blériot 63017 Clermont-Ferrand - FRANCE Phone: +33-4-73-98-14-00 Fax: +33-4-73-98-14-38 e.cazal@laboratoires-thea.fr Dureau, Pascal, Dr. Fondation Rothschild 25 rue Manin 75019 Paris - FRANCE Phone: +33-1-48-03-66-49 Fax: +33-1-48-03-65-37 pdureau@fo-rothschild.fr Edelson, Catherine, Dr. Fondation Rothschild Ophthalmology 25 Rue Manin 75019 Paris - FRANCE Phone: +33-674978847 edelson1@orange.fr Eduardo Sanchez, Yuri William, Dr. Hospital 12 De Octubre Avenida de Cordoba s/n 28000 Madrid - SPAIN Phone: +34-619165414 yurwil@gmail.com
36th Annual Meeting of the European Paediatric Ophthalmological Society
Participants
107
Escudero, Julia, Dr. Hospital Carlos Haya Pediatric Ophthalmology Avenida Arroyo De Los AngelesS/N 29011 Malaga - SPAIN Phone: +34-616459066 julia.escuderogomez@gmail.com Fassbender, Bernd, Dr. Praxis Giers, V. Lovenberg, Kretschmann, Fassbender Elisabethstr. 85 32756 Detmold - GERMANY Phone: +49-179-4155505 Fax: +49-5231-309034 bfassbender@gmx.de Fomina, Natalya, Dr. St.Petersburg's Postgraduate Medical Academy Glinky str., 4 190068 Sankt-Petersburg - RUSSIAN FEDERATION Phone: +7-812-714-79-95 Fax: +7-812-714-08-37 natalya_fom@mail.ru Friedburg, Christoph, Dr. Justus-Liebig-University Department Of Ophthalmology Friedrichstr. 18 35392 Giessen - GERMANY Phone: +49-641-99-43940 Fax: +49-641-99-43809 c.friedburg@web.de Gaillard, Marie-Claire, Dr. Hôpital Ophtalmique Jules Gonin Avenue de F 15 1000 Lausanne 7 - SWITZERLAND Phone: +41-26-626-85-80 Fax: +41-26-626-8544 marie-claire.gaillard@bluewin.ch Gerinec, Anton, Prof. Dr. Children University Hospital Pediatric Ophtal. Dept. Limbova 1 83340 Bratislava - SLOVAKIA Phone: +421-2-59371345 gerinec@azet.sk Hajdari, Arsim, University Of Prishtina St.Antigona Fazliu 30/22 10000 Prishtina ALBANIA Phone: +355-377-44-242-105 c_hajdari@hotmail.com
Hindaal, Corrie, Dr. Haga Ziekenhuis Ophthalmology Leyweg 275 2545CH The Hague - NETHERLANDS Phone: +31-702102441 c.hindaal@hagaziekenhuis.nl Holmström, Gerd, Prof. Dr. Uppsala University Hospital Ophthalmology Uppsala 75185 Uppsala - SWEDEN Phone: gerd.holmstrom@neuro.uu.se Huang, Kui, Dr. Pfizer Inc Epidemiology 235 East 42nd St, 150/3/80 10017 New York 10017 - UNITED STATES Phone: +1-212-733-1309 kui.a.huang@pfizer.com Ignotiene, Salomeja, Dr. Vilnius University Children Hospital Eye Department Santariškių Str. 7, 08661 Vilnius - LITHUANIA Phone: +370-61020743 ignotiene@gmail.com Jäger, Melanie, Dr. Justus-Liebig-University Department Of Ophthalmology Friedrichstr. 18 35392 Giessen - GERMANY Phone: +49-6419943820 melanie.jaeger@gmx.de Kaercher, Thomas, Prof. Dr. Augenarzt Dossenheimer Landstrasse 48 69121 Heidelberg - GERMANY Phone: +49-33473981451 Fax: +49-33473981424 m.moneron@laboratoires-thea.fr Katargina, Lyudmila, Dr. Helmholtz Eye Sadovo-Cernograzskaya, 14/19 105062 Moscow - RUSSIAN FEDERATION Phone: +7-84957677422 Fax: +7-84956329589 katargina@igb.ru
36th Annual Meeting of the European Paediatric Ophthalmological Society
Participants
108
Körtvélyes, Judit, Dr. Semmelweis University Ophthalmology Tömő street 25-29 1083 Budapest - HUNGARY Phone: +36-20-515-38-68 judit.kortvelyes@gmail.com Kostolna, Barbora, Dr. Comenius University Hospital Paediatric Ophthalmology Department Limbová 1 83340 Bratislava - SLOVAKIA Phone: +421-2-59371-345 kostolnab@gmail.com Kovalevskaya, Irina, Prof. Dr. Military Medical Academy Ophthalmology 6,Lebedeva 194175 St.Peterburg - RUSSIAN FEDERATION Phone: +7-812-4962592 Fax: +7-812-4962592 is_kovalevskaja@mail.ru Kozeis, Nikolaos, Dr. Hippokration Hospital Of Thessaloniki Paediatric Eye Department Konstantinoupoleos 49 54642 Thessaloniki - GREECE Phone: +30-6932270727 nkozeis@med.auth.gr Krivaitiene, Dalia, Dr. VilniusUniversity children hospital Eye department Santariškių 7 08406 Vilnius LITHUANIA Phone: +370-6942993 daliakriv@gmail.com Kuppens, Esmeralda, Dr. Hagahospital Ophthalmology van Soutelandelaan 121 2597EX The Hague - NETHERLANDS Phone: +31-703502381 evmj@xs4all.nl Kuus, Imbi, Dr. Tartu University Clinics Eye Clinic Kuperjanov Str 1 51003 Tartu - ESTONIA Phone: +372-5226812 Imbi.Kuus@kliinikum.ee
Larsson, Eva, Dr. Inst of Neuroscience Dept of Ophthalmology Uppsala University Hospital 751 85 UPPSALA - SWEDEN Phone: +46-18-303252 eva.larsson@neuro.uu.se Liempt, Irene, Dr. Amphia Hospital Breda Ophthalmology Dorpstraat 4A 4851 CM Ulvenhout - NETHERLANDS Phone: +31-765601436 ilavanliempt@gmail.com Lorenz, Birgit, Prof. Dr. Justus-Liebig-University Department Of Ophthalmology Friedrichstr. 18 35392 Giessen - GERMANY Phone: +49-641-99-43801 Fax: +49-641-99-43809 birgit.lorenz@uniklinikum-giessen.de Maeda-Chubachi, Tomoko, Dr. Pfizer Inc 10555 Science Center Drive 92121 San Diego, Ca 92121 - UNITED STATES Phone: +1-858-622-8863 tomoko.maeda@pfizer.com Maldonado, Ramiro, Dr. Duke University Ophthalmology 2351 Erwin Rd 27705 Durham 27705 - UNITED STATES Phone: +1-919-613-6876 ram.maldonado@gmail.com Marinho Saraiva, Eduardo, Dr. Centro Hospitalar De Vila Nova De Gaia E Espinho R. Conceição Fernandes - Vilar de Andorinho 4434-502 Vila Nova De Gaia - PORTUGAL Phone: +351-914884485 eduardomsaraiva@gmail.com Markowska, Elżbieta, Dr. Children's Hospital Of Pediatric Ophthalmology 17 Waszyngtona Street 15-274 Bialystok - POLAND Phone: +48-857450858 e-markowska@wp.pl
36th Annual Meeting of the European Paediatric Ophthalmological Society
Participants
109
Mathys, Renske, Dr. UZ Brussel Laarbeeklaan 101 1090 Jette - BELGIUM Phone: +32-496469655 renske.mathys@uzbrussel.be Medvedeva, Marina, PD Dr. Kursk National Medical Uneversity Cheluskincev 15, 20 8(471) Kursk - RUSSIAN FEDERATION Phone: +7-89036392991 Fax: +89036392991 mari-la2003@mail.ru Meire, Francoise, Prof. Dr. HUDERF,Hopital Universitaire des Enfants Ophthalmology Avenue JJ Crocq 1020 Brussels BELGIUM Phone: +32-50351197 francoise.meire@telenet.be Moosajee, Mariya, PD Dr. Imperial College London Molecular Medicine Exhibition Road London SW7 2AZ - UNITED KINGDOM Phone: +44-7971573132 mariya@doctors.org.uk Morales, Marta, Dr. Hospital Sant Joan De Deu Ophthalmology Pº Sant Joan de Deu 2 08500 Esplugues - SPAIN Phone: +34-932804000 Mmorales@hsjdbcn.org Moser, Elisabeth, Dr. Medical University Of Vienna Ophthalmology Währinger Gürtel 18-20 1090 Vienna - AUSTRIA Phone: +43-1404007908 elisabeth.moser@meduniwien.ac.at Munier, Francis, Prof. Dr. Jules Gonin Eye Hospital Ophthalmology Avenue de F 15 1004 Lausanne - SWITZERLAND Phone: +41-21-626-85-80 Fax: +41-21-626-85-44 francis.munier@fa2.ch
Mushin, Alan, Dr. Ophthalmologist 935 Finchley Road London NW11 7PE - UNITED KINGDOM Phone: +44-2075803116 Fax: +44-2075806998 almushin@btinternet.com Perdomo Trujillo, Yaumara, PD Dr. Centre De Référence Pour Les Affections Rares En Génétique Ophtalmologique (CARGO) 1, Place de l'Hôpital, Hôpitaux Universitaires de Strasbourg. 67091 Strasbourg - FRANCE Phone: +33-0388116753 yauemprend@yahoo.fr Persson, Christina, Dr. St Eriks Eye Hospital Ab Pediatric Ophthalmology And Strabismus Polhemsgatan 50 112 82 Stockholm - SWEDEN Phone: +46-8-6723276 christina.persson@sankterik.se Piret, Juri, Dr. Tartu University Clinic Kuperjanovi 1 51003 Tartu - ESTONIA Phone: +372-7319755 Piret.Jyri@kliinikum.ee Porro, Giorgio, Dr. Utrecht University Hospital Ophthalmology Heidelberglaan 100 3508GA Utrecht - NETHERLANDS Phone: +31-765951000 gporro@amphia.nl Preising, Markus, Dr. Justus Liebig University Department Of Ophthalmology Friedrichstr. 18 35392 Giessen - GERMANY Phone: +49-641-99-43837 Fax: +49-641-99-43999 markus.preising@uniklinikum-giessen.de Prepiakova, Zuzana, Dr. Comenius University Hospital Pediatric Ophtalmology Department Limbová 1 83340 Bratislava - SLOVAKIA Phone: +421-259371345 prepiakova.zuzana@gmail.com
36th Annual Meeting of the European Paediatric Ophthalmological Society
Participants
110
Prick, Liesbeth, PD Dr. Amc Department Of Ophthalmology meibergdreef 9 1015RD Amsterdam NETHERLANDS Phone: +31-614397211 l.j.prick@amc.uva.nl Racano, Elisabetta, Dr. Ospedale di Rovereto (TN) U.O. Oculistica Via dei Tomasoni 38061 S. Margherita di Ala (TN) - ITALY Phone: +39-3383358170 elracan@tin.it Ribeiro, Lígia, Dr. Centro Hospitalar Vila Nova Gaia Ophthalmology Rua Calouste Gulbenkiana 131 2º H1 4050 145 Porto - PORTUGAL Phone: +351-966121181 ligiamfr@gmail.com Rosensvärd, Annika, Dr. St Eriks Eye Hospital Pediatric Ophthalmology And Strabismus Polhemsgatan 50 112 82 Stockholm - SWEDEN Phone: +46-8-672-32-77 Fax: +46-8-672-33-07 annika.rosensvard@sankterik.se Roulez, Francoise, Dr. Vista Alpina Ophthalmology rue Mercier de Molin 2 3960 Sierre - SWITZERLAND Phone: +41-774022339 francoise.roulez@gmail.com Saidasheva, Elvira, PD Dr. Children Hospital #1 Pediatric Ophthalmology 14, Avangardnaj 198332 Saint Petersburg - RUSSIAN FEDERATION Phone: +7-812-735-91-08 Fax: +7-812-735-91-08 esaidasheva@mail.ru Sayadi, Imen, Ophtalmologist Les Amis des Aveugles, Centre de Basse Vision rue de la Barrière,37-39 7011 Ghlin (MONS) - BELGIUM Phone: +32-6540-31-00 Fax: +32-6540-31.09 c.dufour@amisdesaveugles.be
Schalij-Delfos, Nicoline, Prof. Dr. Lumc Ophthalmology PO Box 9600 (J3S) 2300 RC Leiden - NETHERLANDS Phone: +31-715262374 Fax: +31-715248222 n.e.schalij-delfos@lumc.nl Schmidt, Werner, Dr. Justus Liebig University Department Of Ophthalmology Friedrichstr. 18 35392 Giessen - GERMANY Phone: +49-641-99-43820 Fax: +49-641-99-43809 werner.schmidt@augen.med.uni-giessen.de Schoevaart, Karen, Dr. Lange Land Ziekenhuis Ophthalmology Toneellaan 1 2725 NA Zoetermeer - NETHERLANDS Phone: +31-793462626 Schoevk1@llz.nl Serra, Alicia, Dr. Hospital De Sant Joan De Deu Ophthalmology Pº Sant Joan de Deu 2 08500 Esplugues - SPAIN Phone: +34-607957321 bloss@blossgroup.com Shepeluik, Galyna, Dr. N.I.Pirogov Memorial Vinnitsa National Medical University, UA UA, Zhutomur, Vul. Vitruka 32,146 10009 Zhutomur - UKRAINE Phone: +380-979169819 shepelyuk.g.g@gmail.com Skupin, Aneta, Justus-Liebig-University Department Of Ophthalmology Friedrichstr. 18 35392 Giessen GERMANY Phone: +49-17678183465 anetaskupin@gmail.com Slyskova, Henrieta, Dr. LKB Bruck an der Mur Ophthalmology Tragößer Str 3 8600 Brusc an der Mur - AUSTRIA Phone: +43-69917149393 stipanitzova@hotmail.com
36th Annual Meeting of the European Paediatric Ophthalmological Society
Participants
111
Sminia, Marije, Dr. Academic Medical Centre Meibergdreef 9 1105 AZ Amsterdam - NETHERLANDS Phone: +31-615081905 m.l.sminia@amc.uva.nl Stefanut, Anne Claudia, Dr. County Clinical Emergency Cluj Ophthalmology Clinicilor 3-5 400420 Cluj-Napoca - ROMANIA Phone: +40-722249210 claudiastefanut@yahoo.com Stieger, Knut, Dr. Justus Liebig University Department Of Ophthalmology Friedrichstr. 18 35392 Giessen - GERMANY Phone: +49-641-43835 knut.stieger@uniklinikum-giessen.de Stirn Kranjc, Branka, PD Dr. Univ. Eye Hospital Grabloviceva 46 1000 Ljubljana - SLOVENIA Phone: +386-41-292-562 Fax: +386-1-522-1960 branka.stirn@guest.arnes.si Sultan, Marla, Dr. Pfizer, Inc, New York Eye & Ear Infirmary 23 stone arch road 11568 Old Westbury 11568 - UNITED STATES Phone: +1-9173127330 marla.b.sultan@pfizer.com Taylor, David, Prof. Dr. International Council Of Ophthalmology 11-43 Bath Street London EC1V 9EL - UNITED KINGDOM Phone: +44-7836344028 DSIT@BTINTERNET.COM Tekavcic Pompe, Manca, Dr. Eye Hospital Grabloviceva 46 1000 Ljubljana - SLOVENIA Phone: +386-15221802 manca.tekavcic-pompe@guest.arnes.si Testa, Francisco, Dr. Second University Of Naples, Ophthalmology Via S. Pansini 80131 Napoli - ITALY Phone: +39-817704501 Fax: +39-817704501 franctes@tin.it
Thampy, Reshma, Dr. Manchester Royal Eye Hospital Dept Of Ophthalmology Oxford Road Manchester M13 9WL - UNITED KINGDOM Phone: +44-1619621576 reshmathampy@gmail.com Tomcikova, Dana, Dr. Comenius University Hospital Paediatric Ophthalmology Department Limbova 1 83340 Bratislava - SLOVAKIA Phone: +421-2-59371-345 dtomcikova@hotmail.com Treija, Antra, Dr. Children University Hospital Ozolnieku street 3 LV - 1002 Riga - LATVIA Phone: +371-29254326 treijs@apollo.lv Trifanenkova, Irina, Dr. The S. Fyodorov Eye Microsurgery Federal State Institution Kaluga Branch Vishnevskogo street, 1а 248007 Kaluga RUSSIAN FEDERATION Phone: +7-4842505767 Fax: +7-4842505718 nauka@mntk.kaluga.ru Valeina, Sandra, Dr. Children Clinic University Hospital Pediatric Ophthalmology Vienibas Gatve 45 1004 Riga - LATVIA Phone: +371-29470668 VALEINE@BKUS.LV van Sorge, Arlette, Leiden University Medical Centre Ophthalmology Albinusdreef 2 2300RC Leiden - NETHERLANDS Phone: +31-613621827 Fax: +31-715248222 a.j.van_sorge@lumc.nl Vanselow, Karoline, Dr. St.Vincentius-Kliniken, Ophthalmology Steinhäuserstr.18 76135 Karlsruhe - GERMANY Phone: +49-7243-945494 karoline@vanselow.net
36th Annual Meeting of the European Paediatric Ophthalmological Society
Participants
112
Wallin, Agneta, Dr. St Erik Eye Hospital Department of Strabismus and Pediatric Ophtalmology Ögonkliniken Danderyd Hospital 182 88 Stockholm - SWEDEN Phone: +46-86556423 Fax: +46-87534650 agneta.wallin@sankterik.se Walraedt, Sophie, Dr. Ghent University Hospital Dept Of Ophtalmology De Pintelaan 185 9000 Gent - BELGIUM Phone: +32-93322906 sophie.walraedt@skynet.be Wirth Barben, Gabriela, Dr. Augenarztpraxis Rorschacherstrasse 161 9006 St.Gallen - SWITZERLAND Phone: +41-71-245-33-32 Fax: +41-71-245-82-52 gabriela.wirth@hin.ch Wittebol-Post, Dienke, Dr. University Medical Center Utrecht Ophthalmology PO Box 855000 3508 GA Utrecht - NETHERLANDS Phone: +31-887555555 p.wittebol@planet.nl Wongwai, Phanthipha, Dr. Khon Kaen University Ophthalmology, Srinagarind Hospital 123 Mitraparb Road 40002 Khon Kaen - THAILAND Phone: +66-81-6616005 Fax: +66-43-348383 pantipawongwai@gmail.com Ziakas, Nikolaos, Prof. Dr. Aristotle University Of Thessaloniki Ophthalmology 93 Metropoleos Street 54622 Thessaloniki - GREECE Phone: +30-2310280260 Fax: +30 2310240666 nikolasziakas@yahoo.gr
36th Annual Meeting of the European Paediatric Ophthalmological Society
Organizational Co-workers
113
Ehnes, Alexander, Dipl.Ing. Inf. (FH) Justus Liebig University Department Of Ophthalmology Friedrichstr. 18 35392 Giessen - GERMANY Phone: +49-640465184 aehn62@googlemail.com Giers, Bert Constantin, Justus Liebig University Department Of Ophthalmology Friedrichstr. 18 32760 Giessen GERMANY Phone: +49-1711442575 b.giers@gmx.de Hosch, Jutta, Dipl.-Biol. Justus-Liebig-University Department Of Ophthalmology Friedrichstr. 18 35392 Giessen - GERMANY Phone: +49-641-9943835 jutta.hosch@augen.med.uni-giessen.de Janise, Annabella, Justus Liebig University Department Of Ophthalmology Friedrichstr.18 35392 Giessen - GERMANY Phone: +49-641-9943837 annabella.janise@augen.med.uni-giessen.de Klein, Daniela, Justus Liebig University Department Of Ophthalmology Friedrichstr.18 35392 Giessen - GERMANY Phone: +49-1795183240 Daniela.Klein@vetmed.uni-giessen.de Parise, Bhupesh, M.Sc. Justus Liebig University Department Of Ophthalmology Friedrichstr. 18 35392 Giessen - GERMANY Phone: +49-6419943837 Bhupesh.Parise@augen.med.uni-giessen.de
Pasquay, Caroline, Dipl.-Biol. Justus-Liebig-University Department Of Ophthalmology Friedrichstr. 18 35392 Giessen - GERMANY Phone: +49-641-9943835 c.pasquay@gmx.de Pilch, Matthäus, Dipl.Ing. Inf. (FH) Justus-Liebig-University Department Of Ophthalmology Friedrichstr. 18 35392 Giessen - GERMANY Phone: +49-641-309-2384 Matthaeus.Pilch@googlemail.com Strohmayr, Elisabeth, Justus-Liebig-University Department Of Ophthalmology Friedrichstr. 18 35392 Giessen - GERMANY Phone: +49-641-9943835 elisabeth.strohmayr@augen.med.uni-giessen.de Wang, Lufei, Dr. Justus Liebig University Department Of Ophthalmology Friedrichstr.18 35392 Giessen - GERMANY Phone: +49-6419943837 lufei0808@yahoo.com.cn Wimmer, Tobias, Dipl.Ing. Biotech. (FH) Justus-Liebig-University Department Of Ophthalmology Friedrichstr. 18 35392 Giessen GERMANY Phone: +49-641-99-43837 tobias.wimmer01@web.de Zahn, Steffen, Dipl.Ing. Inf. (FH) Justus Liebig Universität Department Of Ophthalmology Friedrichstr. 18 35390 Giessen - GERMANY Phone: +49-641--309-2384 steffen.zahn@med.uni-giessen.de
36th Annual Meeting of the European Paediatric Ophthalmological Society
This meeting is supported by grants from:
Foundations
Von Behring-Röntgen-Stiftung Schloss 1 D-35037 Marburg – Germany www.br-stiftung.de
Industry
Pfizer Inc 10646 Science Center Drive San Diego, CA 92121 - USA
Polytech Ophthalmologie GmbH Arheilger Weg 6 64380 Roßdorf – Germany www.polytech-online.de
Geuder Aktiengesellschaft Hertzstraße 4 69126 Heidelberg – Germany www.geuder.de
36th Annual Meeting of the European Paediatric Ophthalmological Society
Exhibitors
Alcon Pharma GmbH Steinbergweg 2 34123 Kassel – Germany www.alcon-pharma.de
Institut für Medizinische Diagnostik GmbH Konrad-Adenauer-Straße 17 55218 Ingelheim – Germany www.bioscientia.de
Théa Pharma GmbH Revierstr. 10 44379 Dortmund www.theapharma.de
ROLAND CONSULT Stasche & Finger GmbH Friedrich-Franz-Str. 19 14770 Brandenburg – Germany www.roland-consult.com
Clarity Medical Systems 5775 W. Las Positas Boulevard Pleasanton, CA 94588-4084 - USA www.claritymsi.com
Carl Zeiss Meditec Vertriebsgesellschaft mbH Carl-Zeiss-Str. 22 73447 Oberkochen – Germany www.meditec.zeiss.de
American Orthoptic JournalOfficial Journal of the American Association of Certified Orthoptists
1930 Monroe Street, 3rd Fl., Madison, WI 53711-2059Phone: (608) 263-0668 • Fax: (608) 263-1173Toll-free fax (U.S. only): (800) 258-3632journals@uwpress.wisc.edu • uwpress.wisc.edu/journals
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Now in MEDLINE!
Highlights from American Orthoptic Journal –Vol. 60, 2010
Is Your Focus . . .
Symposium: What We Really Know About Pediatric Ophthalmology and Strabis-mus: The Application of Evidence-Based Medicine
Evidence-Based Medicine and Levels of Evidence, David K. Wallace, M.D., M.P.H.
The Cochrane Collaboration and Meta-analysis of Clinical Data, Kimberley Beaudet, C.O., C.O.M.T.
ROP: A Cautionary Tale: What We Know and What We Think We Know, James D. Reynolds, M.D.
Functional Benefits of Sensory and Motor Evaluation Before Strabismus Surgery, Katherine J. Fray, C.O.
Functional Benefits of Adult Strabismus Surgery, Paula M. Edelman, C.O.Do We Need Evidence for Everything?, David G. Hunter, M.D., Ph.D.
The Richard G. Scobee Memorial Lecture:Questions Revisited: Is Experience Still the Best Teacher? Edward L. Raab, M.D.
The John Pratt-Johnson Annual LectureCharlie Brown, Amblyopia, and Me: A (Not So Short) Personal History of the Past
Forty Years of Diagnosing and Treating Amblyopia, Thomas D. France, M.D.Ultra-rapid School Vision Screening in Developing Nations Using the Brückner Test,
Mihir Kothari, M.D., and Snehal Kosumbkar, D.Optom.
Effect of Motion Stimulation Without Changing Binocular Disparity on Stereopsis in Strabismus Patients Tomoya Handa, C.O., Ph.D., Hitoshi Ishikawa, M.D., Hisaharu Nishimoto, M.D., Toshiaki Goseki, M.D., Yoshiaki Ichibe, M.D., Hiromi Ichibe, M.D., Shoji Nobuyuki, M.D., and Kimiya Shimizu, M.D.
Case Report: Migraine Caused by Abnormal Head Posture in a Patient with Ptosis Eric L. Singman, M.D., Ph.D., Noelle S. Matta, C.O., C.R.C., C.O.T., and David I. Silbert, M.D., F.A.A.P.
The American Orthoptic Journal clearly covers these fields. The journal presents information from papers presented at:
•NorthAmericanmeetingsandconferences
•Clinicalresearcharticles
•Abstractsfrompublicationsaroundtheworldincluding:German, French, and British journals
•Bookreviews
Through the journal, members of the ophthalmologic community can keep abreast of current clinical practice and research in the fields of ocular motility and amblyopia.
Ophthalmology?Pediatric Ophthalmology?Neuro-Ophthalmology?Strabismus?Amblyopia?